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INTRODUCTION

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INTRODUCTION

Muscular dystrophy (abbreviated MD) refers to a group of muscle diseases that

weaken the muscles that move the human body. Muscular dystrophies are

characterized by progressive skeletal muscle weakness, defects in muscle proteins,

and the death of muscle cells and tissue. Nine diseases including Duchenne,

Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal,

distal, and Emery-Dreifuss are always classified as muscular dystrophy but there

are more than 100 diseases in total with similarities to muscular dystrophy. Most

types of MD are multi-system disorders with manifestations in body systems

including the heart, gastrointestinal and nervous systems, endocrine glands, skin,

eyes and other organs, namely the brain. The condition may also lead to mood

swings and learning difficulties.

In the 1860s, descriptions of boys who grew progressively weaker, lost the ability

to walk, and died at an early age became more prominent in medical journals. In

the following decade, French neurologist Guillaume Duchenne gave a

comprehensive account of 13 boys with the most common and severe form of the

disease (which now carries his name — Duchenne muscular dystrophy). It soon

became evident that the disease had more than one form, and that these diseases

affected males of all ages.

Muscular dystrophy (MD) is a genetic (inherited) condition that over time

gradually causes the muscles to weaken. This leads to an increasing level of

disability.

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There are several different types of MD, with different symptoms and patterns of

progression. Not all types of MD cause severe disability, but there is currently no

cure for the condition.  

MD is caused by mutations (cellular changes) in the genes that are responsible for

the structure and functioning of a person’s muscles. The mutations can occur

spontaneously, but they are normally inherited from a person’s parents. 

The mutations cause changes in the muscle fibres, which interferes with the

muscle’s ability to function. Over time, this causes increasing disability. 

Muscular dystrophies are a group of inherited muscle disorders in which one or

more genes needed for normal muscle function are defective, leading to muscle

weakness (see Symptoms and Diagnosis of Musculoskeletal Disorders: Weakness)

of varying severity. Other inherited muscle disorders include congenital

myopathies, periodic paralysis, and glycogen storage diseases.

Glycogen storage diseases are a group of rare inherited disorders in which muscles

cannot metabolize sugars normally (see Hereditary Metabolic Disorders: Glycogen

Storage Diseases), so they build up large stores of glycogen (a starch that is formed

from sugars).

Muscular dystrophy is the term used to describe a group of diseases of the muscles.

With muscular dystrophy the muscles become weak and can waste

away.There are over 20 different kinds of muscular dystrophies.

The number of people affected by muscular dystrophy depends on the

specific type. For example,approximately one child in 4,000 will have

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Approximately one in 3,000 will have Duchenne Muscular Dystrophy. The

different types of muscular dystrophy have different causes.

Some have genetic causes. A virus or illness causes some. Others have

unknown causes.

To diagnose muscular dystrophy a doctor will take a detailed history,

perform a thorough physical examination, and conduct specific tests.

One of these tests is an electromyogram (EMG), which measuresthe

electrical activity of the muscles.

If a diagnosis cannot be made based on these tests, a muscle biopsy is

oftenThese tests usually give the diagnosis in about 80% of the patients.

However, even with new tests approximately 15%-20% of patients will go

undiagnosed.

Some of the health problems that people with muscle diseases can

experience are problems with breathing and/or heart problems.

Many patients can develop curvature of the spine (scoliosis) or muscle

contractions leading to the need for surgery.

The treatment depends upon the specific cause of muscle weakness.

However, physical therapy and occupational therapy are often used. In some

cases a person with a muscle disease will get worse over time, and may have

a shorter life expectancy than someone without the disease. However, some

of the muscle diseases do not affect life expectancy at all.

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DEFINITION

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DEFINITION:-

One of a group of genetic diseases characterized by progressive weakness and

degeneration of the skeletal or voluntary muscles which control movement. The

muscles of the heart and some other involuntary muscles are also affected in some

forms of muscular dystrophy, and a few forms involve other organs as well.

Guillaume-Benjamin-Amand Duchenne, 1987

Inherited disease that causes progressive weakness in the skeletal (and occasionally

heart) muscle. Muscle tissue degenerates and regenerates randomly and is replaced

by scar tissue and fat.

Britannica Concise Encyclopaedia, 1999

Muscular dystrophies (MD) are inherited disorders characterized by progressive

weakness and degeneration of the skeletal or voluntary muscles which control

movement, without a central or peripheral nerve abnormality. The muscles of the

heart and other involuntary muscles are also affected in some forms of MD, and a

few forms involve other organs as well.

Neurological Disorder Journals, 2000

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REVIEW

OF

LITERATURE

A B S T R A C T7 | P a g e

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Lunt and Harper et al (1991) concluded that there is a dominantly inherited

scapulohumeral or scapuloperoneal syndrome genetically distinct from FSHD that

does not have facial weakness as a feature. Many cases (as much as 25%) may

represent new, ex-novo mutations.

Alan E H Emery et al 1954 stated that muscular dystrophies are a group of

genetic diseases that severely affect children and adults. For sufferers and their

family, the illness presents enormous physical and psychological challenges.

C. Jimenez-Mallebrera, S. C. Brown, C. A. Sewry and F. Muntoni et al

December 2004 congenital muscular dystrophies are a clinically and genetically

heterogeneous group of neuromuscular disorders. Each form has a characteristic

phenotype, but there is overlap between some entities and their classification is

based on a combination of clinical features and the primary or secondary protein

defect.

Josef Finsterer et al 17 July 2006 becomes “definite” in all patients with MD,

BMD, and MMP, but progresses markedly only in BMD patients within 10 years.

MD, BMD, or MMP patients should be cardiologically investigated as soon as the

neurological diagnosis is established and treated if CI becomes symptomatic, or in

case of severe ECG or echocardiographic abnormalities.

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Stamulumab et al 2005/2006 trial was completed by Wyeth in Collegeville, PA.

As of April 2007, the results of the study have not yet been made public, but it is

one of the few known drugs in development for the treatment for muscular

dystrophy. Myostatin is a protein that inhibits the growth of muscle tissue, MYO-

029 is a recombinant human antibody designed to bind and inhibit the activity of

myostatin.

Abu-Baker A, Rouleau GA et al 2003 made experiments and finally made a

conculsion that Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset

disorder characterized by progressive eyelid drooping, swallowing difficulties and

proximal limb weakness. OPMD is caused by a small expansion of a short

polyalanine tract in the poly (A) binding protein nuclear 1 protein (PABPN1).

QH Leyten et al – 1996 Congenital muscular dystrophy (CMD) is a condition

in which there are already at birth, marked hypotonia, generalized muscle

weakness and frequently multiple contractures. CMD has recently been classified

into four categories: CMD I, the classical or ‘pure’ CMD without severe

impairment of intellectual development; CMD II, the Fukuyama type CMD with

muscle and structural brain abnormalities.

B. G. M. van Engelen et al 16 December 1999 Central nervous system (CNS)

characteristics were examined in seventeen patients with autosomal recessive

classic or “pure” congenital muscular dystrophy (CMD). In three patients,

neuroradiological examination (CT/MRI) indicated hypodense white matter areas.

Two out of these three patients had epilepsy (seizures and epileptic discharges on

their EEG)

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F. J. M. Gabreëls et al 19 March 1999 conducted an experiment on congenital

muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of

muscle weakness and hypotonia, severe contractures, bulbar syndrome,

progressive external ophtalmoplegia, and white matter changes on magnetic

resonance imaging (MRI) of the brain, but no mental defect. Serum creatine

kinase (CK) level was normal.

Jennifer E. Morgan et al 26 August 2002 observed that Steroids represent the

only pharmacological palliative treatment for Duchenne muscular dystrophy.

However, they do have side effects and despite a large number of published studies

showing their efficacy, they are still not universally used. This is largely due to the

lack of functional outcome and quality of life measures in most of the published

studies and suggests that further trials might be required to answer some of the still

unclear aspects of their role.

Sara T Winokur et al 19 November 2002 reported that the myoblasts suggests

that aberrant gene expression occurs early in facioscapulohumeral muscular

dystrophy muscle development. In order to test this hypothesis, global gene

expression profiling and in vitro characterization of facioscapulohumeral muscular

dystrophy and control myoblasts were carried out.

Silvère M. van der Maarel et al 30 May 2006 Clinical trials based on suppression

of inflammatory reactions or increasing muscle mass by drugs or training have

been disappointing. A recent, probably the first evidence-based pilot trial to revert

epigenetic changes did also not provide grounds for a larger clinical study. Clearly,

better disease models need to be developed to identify and test novel intervention

strategies to eventually improve the quality of life for patients with FSHD.

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Rabi Tawil et al 3 October 2008 reveals that Autosomal dominant

facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by

progressive wasting and weakness of the facial, shoulder, and upper-arm muscles.

FSHD is caused by contraction of the macrosatellite repeat D4Z4 on chromosome

4q35. The D4Z4 repeat is very polymorphic in length, and D4Z4 rearrangements

occur almost exclusively via intrachromosomal gene conversions.

H. Lidov et al manufestated a prototypical form is Duchenne muscular dystrophy,

an X-linked disorder, but there are nearly 20 rarer similar disorders called limb-

girdle dystrophies or congenital muscular dystrophies. Duchenne dystrophy is

caused by loss of dystrophin, a 427 kDa cytoskeletal actin-binding protein. A

cluster of proteins that form an integral membrane complex (dystroglycans,

sarcoglycans) links dystrophin to the extracellular matrix.

Kate Bushby et al 27 September 2006 stated that The limb-girdle muscular

dystrophies are a group of disorders where our understanding of their underlying

molecular basis has made huge strides over the past years, revealing great

heterogeneity at the clinical and molecular level.

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TYPES

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Types

1. Duchenne muscular dystrophy

2. Becker's muscular dystrophy

3. Congenital muscular dystrophy

4. Distal muscular dystrophy

5. Emery-Dreifuss muscular dystrophy

6. Facioscapulohumeral muscular dystrophy

7. Limb-girdle muscular dystrophy

8. Myotonic muscular dystrophy

9. Oculopharyngeal muscular dystrophy

10. Spinal muscular atrophy

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Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of

muscular dystrophy characterized by rapid progression of muscle degeneration,

eventually leading to loss of ambulation and death. This affliction affects one in

3500 males, making it the most prevalent of muscular dystrophies. In general, only

males are afflicted, though females can be carriers. Females may be afflicted if the

father is afflicted and the mother is also a carrier/ affected. The disorder is caused

by a mutation in the gene DMD, located in humans on the X chromosome (Xp21).

The DMD gene codes for the protein dystrophin, an important structural

component within muscle tissue. Dystrophin provides structural stability to the

dystroglycan complex (DGC), located on the cell membrane.

Symptoms usually appear in male children before age 5 and may be visible in early

infancy. Progressive proximal muscle weakness of the legs and pelvis associated

with a loss of muscle mass is observed first. Eventually this weakness spreads to

the arms, neck, and other areas. Early signs may include pseudohypertrophy

(enlargement of calf and deltoid muscles), low endurance, and difficulties in

standing unaided or inability to ascend staircases. As the condition progresses,

muscle tissue experiences wasting and is eventually replaced by fat and fibrotic

tissue (fibrosis). By age 10, braces may be required to aid in walking but most

patients are wheelchair dependent by age 12. Later symptoms may include

abnormal bone development that lead to skeletal deformities, including curvature

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of the spine. Due to progressive deterioration of muscle, loss of movement occurs

eventually leading to paralysis. Intellectual impairment may or may not be present

but if present, does not progressively worsen as the child ages.

Becker's muscular dystrophy

A form of muscular dystrophy that is quite similar to Duchenne muscular

dystrophy, except that patients with Becker do produce some of the key protein,

dystrophin, whereas those with Duchenne do not. Progression of the disease in

Becker type is slower than in Duchenne, and symptoms may appear as late as the

mid-twenties.

Becker muscular dystrophy (also known as Benign

pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited

disorder characterized by slowly progressive muscle weakness of the legs and

pelvis.

It is a type of dystrophinopathy, which includes a spectrum of muscle diseases in

which there is insufficient dystrophin produced in the muscle cells, resulting in

instability in the structure of muscle cell membrane. This is caused by mutations in

the dystrophin gene, which encodes the protein dystrophin. Becker muscular

dystrophy is related to Duchenne muscular dystrophy in that both result from a

mutation in the dystrophin gene, but in Duchenne muscular dystrophy no

functional dystrophin is produced making DMD much more severe than BMD.

Both Duchenne and Becker muscular dystrophy have traditionally been called "X-

linked" recessive diseases, but in view of modern molecular biology and

identification of the dystrophin gene, it might be more appropriate to say they are

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Figure No-1.1 shows the involvement of body parts for Duchenne and Becker’s

type.

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Congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is the term used to describe muscular

dystrophy that is present at birth. CMD describes a number of autosomal recessive

diseases of muscle weakness and possible joint deformities, present at birth and

slowly progressing. Life expectancies for affected individuals vary, although some

forms of CMD do not affect life span at all.

All such known dystrophies are genetically recessive and result from mutations in

a variety of different genes, including those encoding the laminin-α2 chain,

fukutin-related protein, LARGE and fukutin, amongst others. Currently there is no

cure. Physical and occupational therapy, surgery, wheelchairs and other assistive

technology may be helpful.

Congenital myopathies (including X-linked myotubular myopathy and nemaline

myopathy) typically have normal or near-normal serum CK concentration and

evidence of developmental rather than dystrophic muscle abnormalities on muscle

biopsy. Congenital muscular dystrophy type 1C (MDC1C). MDC1C is a severe

form of CMD with partial merosin deficiency and a partial deficiency of alpha

dystroglycan.

This form of CMD has been mapped to chromosome 19q13.3 with

homozygous mutations identified in the FKRP gene. Mutations in this 12-kb gene,

which is composed of three non-coding exons and one large coding exon, is also

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the cause of LGMD2I (see Limb-Girdle Muscular Dystrophy Overview), which,

despite a variable phenotype, is milder in presentation than MDC1C.

While one common mutation has been identified in FKRP, this mutation has

only been observed in persons with LGMD2I and has not been seen in MDC1C.

Brown et al (2004) correlated both the mutation type and expression of alpha

dystroglycan with the disease phenotype. Specifically, persons with MDC1C

consistently show a severe deficiency of alpha dystroglycan and are either

compound heterozygotes for one missense mutation and one nonsense mutation or

have two missense mutations. Conversely, individuals with LGMD2I have the

common mutation (C826A) and either a missense or nonsense mutation, and only

mild to moderately decreased alpha dystroglycan. Individuals with mild LFMD2I

are homozygous for the common mutation and show only a mild deficiency of

alpha dystroglycan.

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Distal muscular dystrophy

One of two genetic muscle diseases characterized by wasting of the muscles most

distant from the midline, such as those of the hands and feet. Both types of distal

MD are inherited in an autosomal dominant manner and may affect males and

females.

The first type of distal MD starts in infancy, does not progress after adolescence,

and is not debilitating. The second type of distal MD starts after age 40, affects the

muscles of the hands and feet and then the muscles closer to the trunk but does not

shorten the life span.

Emery-Dreifuss muscular dystrophy

Abbreviated EDMD. A form of muscular dystrophy that begins in childhood or

adolescence as a slowly progressive disorder of the upper arms or upper legs

characterized by weakness and atrophy of muscles without involvement of the

nervous system. Contractures of the limbs, especially the elbows, are common

complications, as are serious heart problems.

EDMD is caused by mutation in the gene encoding emerin in chromosome band

Xq28. Although only males have the muscle problems associated with EDMD,

females may have the heart problems. Accordingly, female relatives of males with

this disorder should have regular heart check-ups.

There are two other known types of EDMD. Both are caused by mutation in the

lamin A gene (LMNA). One displays similar features to EDMD and is inherited in

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an autosomal dominant manner; it is classified as EDMD type 2. The other type

appears to lack cardiac problems and is inherited in an autosomal recessive

manner; it is EDMD type 3.

Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular

dystrophy. The EMD and LMNA genes provide instructions for making proteins

that are components of the nuclear envelope, which surrounds the nucleus in cells.

The nuclear envelope regulates the movement of molecules into and out of the

nucleus, and researchers believe it may play a role in regulating the activity of

certain genes.

Most cases of Emery-Dreifuss muscular dystrophy are caused by mutations

in the EMD gene. This gene provides instructions for making a protein

called emerin, which appears to be essential for the normal function of

skeletal and cardiac muscle. Most EMD mutations prevent the production of

any functional emerin. It remains unclear how a lack of this protein results in

the signs and symptoms of Emery-Dreifuss muscular dystrophy.

Less commonly, Emery-Dreifuss muscular dystrophy results from mutations

in the LMNA gene. This gene provides instructions for making two very

similar proteins, lamin A and lamin C. Most of the LMNA mutations that

cause this condition result in the production of an altered version of these

proteins.

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Figure No-1.2 shows the involvement of body parts for Emery-Dreifuss muscular

dystrophy.

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Facioscapulohumeral muscular dystrophy

A form of muscular dystrophy that begins before age 20 with slowly

progressive weakness of the muscles of the face, shoulders, and feet. The severity

of the disease is variable. Although most people with facioscapulohumeral

muscular dystrophy (FSHD) retain the ability to walk, about 20% of affected

individuals require a wheelchair. Life expectancy is not shortened.

The diagnosis of FSHD can be confirmed by a DNA test disclosing the deletion of

copies of a repeat motif called D4Z4 on chromosome 4. FSHD is inherited in an

autosomal dominant manner. Offspring of an affected individual have a 50%

chance of inheriting the mutant at 4. About 10-30% of cases are due to a new

mutation. Prenatal testing is available.

More than 95% of cases of FSHD are associated with the deletion of integral

copies of a tandemly repeated 3.2kb unit (D4Z4 repeat) at the subtelomeric

region 4q35 of the Human genome of which a normal chromosome will

include between 11-150 repetitions of D4Z4.

There are both heterochromatin and euchromatin structures within D4Z4 and

one putative gene called DUX4.

Inheritance is autosomal dominant, though up to one-third of the cases

appear to be the result of de novo (new) mutations.

The heterochromatin is specifically lost in the deletions of FSHD while the

euchromatin structures remain.

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If the entire region is removed, there are birth defects, but no specific defects

on skeletal muscle.

Individuals appear to require the existence of 11 or fewer repeat units to be

at risk for FSHD. Though the nature of the DNA mutation is known, it has

not been possible to identify a gene or mechanism that causes FSHD and a

novel position effect has been postulated to explain the disease phenotype.

In addition, a few cases of FSHD are the result of rearrangements between

subtelomeric chromosome 4q and a subtelomeric region of 10q. This

location contains a tandem repeat structure highly homologous to 4q35.

Disease occurs when the translocation results in a critical loss of tandem

repeats to the 4q site.

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Figure no-1.3 shows the involvement of body parts for Facioscapulohumeral

muscular dystrophy.

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Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an

autosomal class of muscular dystrophy that is similar but distinct from

Duchenne muscular dystrophy and Becker's muscular dystrophy. Limb-

girdle muscular dystrophy encompasses a large number of rare disorders.

The term "limb-girdle" is used to describe these disorders because the

muscles most severely affected are generally those of the hips and shoulders

-- the limb girdle muscles.

Common symptoms of limb-girdle muscular dystrophy are muscle

weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum

CK, and rippling muscles.

The muscle weakness is generally symmetric, proximal, and slowly

progressive.

In most cases, pain is not present with LGMD, and mental function is not

affected.

LGMD can begin in childhood, adolescence, young adulthood or even later.

The age of onset is usually between 10 and 30. Both genders are affected

equally. When limb-girdle muscular dystrophy begins in childhood the

progression appears to be faster and the disease more disabling. When the

disorder begins in adolescence or adulthood the disease is generally not as

severe and progresses more slowly.

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There is no sensory neuropathy or autonomic or visceral disfunction at

presentation.the specific dermatomes affected can be demonstrated

clinically,and although lower limb deep tendon reflexes and plantar reflex

are lost, abdominal reflexes are preserved

One of a group of diseases that may begin in childhood or later with slowly

progressive weakness and wasting of the muscles restricted to the limb

musculature, especially to the hips and shoulders.

Muscle biopsies of the limb-girdle muscular dystrophies typically show

degeneration and regeneration of muscle (dystrophic biopsy). There is

usually an elevated CPK (creatine phosphokinase) in the blood.

Most patients show relative sparing of the heart and bulbar muscles. The

limb-girdle muscular dystrophies are caused a number of genetic defects and

can affect both males and females. Inheritance is usually autosomal

recessive or, more rarely, autosomal dominant.

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Figure no-1.3 shows the involvement of body parts for Limb-girdle muscular

dystrophy

Myotonic muscular dystrophy

An inherited disease in which the muscles contract but have decreasing power to

relax -- this phenomenon is termed myotonia (irritability and prolonged contraction

of muscles). The disease also leads to a mask-like expressionless face, premature

balding, cataracts, and heart arrhythmias (abnormalities in heart rhythm). The onset

of such problems is usually in young adulthood. However, onset can be at any age

and the disease is extremely variable in the degree of severity.

Myotonic dystrophy is due to a trinucleotide repeat (a "stuttering" sequence of

three bases) in the DNA. The myotonic dystrophy gene (called DM1), found on

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chromosome 19q13.3, codes for a protein kinase (an enzyme) that is found in

skeletal muscle.

An unusual feature is that the signs and symptoms of the disease usually become

more severe with each successive generation. This is because mistakes in the

faithful copying of the gene from one generation to the next result in the

amplification of a genomic "AGC/CTG triplet repeat." Unaffected individuals have

between 5 and 27 copies of AGC/CTG, myotonic dystrophy patients who are

minimally affected have at least 50 repeats, while more severely affected patients

have an expansion of up to several kilobase pairs.

Oculopharyngeal muscular dystrophy

A form of muscular dystrophy that begins in the muscles of the eyes and

throat. It usually appears between the ages of 40 and 60, and progresses slowly.

Oculopharyngeal muscular dystrophy is inherited in an autosomal dominant

manner and affects both males and females. It may be more than one disease. One

type is caused by mutation in the PABP2 gene on chromosome 14 encodes

poly(A)-binding protein-2.

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Figure no-1.4 shows the involvement of body parts for Oculopharyngeal muscular

dystrophy

Spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by

degeneration of motor neurons, resulting in progressive muscular atrophy (wasting

away) and weakness. The clinical spectrum of SMA ranges from early infant death

to normal adult life with only mild weakness. These patients often require

comprehensive medical care involving multiple disciplines, including pediatric

pulmonology, pediatric neurology, pediatric orthopedic surgery, Lower Extremity

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& Spinal Orthosis, pediatric critical care, and physical medicine and rehabilitation;

and physical therapy, occupational therapy, respiratory therapy, and clinical

nutrition. Genetic counseling is also helpful for the parents and family members.

Sensation and the ability to feel are not affected. Intellectual activity is normal and

it is often observed that patients with SMA are unusually bright and sociable.

In all of its forms, the primary feature of SMA is muscle weakness, accompanied

by atrophy of muscle. This is the result of denervation, or loss of the signal to

contract, that is transmitted from the spinal cord. This is normally transmitted from

motor neurons in the spinal cord to muscle via the motor neuron's axon, but either

the motor neuron with its axon, or the axon itself, is lost in all forms of SMA.

The features of SMA are strongly related to its severity and age of onset. SMA

caused by mutation of the SMN gene has a wide range, from infancy to adult, fatal

to trivial, with different affected individuals manifesting every shade of

impairment between these two extremes. Many of the symptoms of SMA relate to

secondary complications of muscle weakness, and as such can be at least partially

remediated by prospective therapy.

Infantile SMA is the most severe form. Some of the symptoms include:

Muscle weakness

Poor muscle tone

Weak cough

Limpness or a tendency to flop

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Difficulty sucking or swallowing

Accumulation of secretions in the lungs or throat

Bell-shaped torso, caused by breathing using muscles around the tummy

area

Clenched fists with sweaty hands

Flickering/vibrating of the tongue

Head often tilted to one side, even when lying down

Legs that tend to be weaker than the arms

Legs lying in the "frogs leg" position

Hypotonia, areflexia, and multiple congenital contractures (arthrogryposis)

associated with loss of anterior horn cells

Feeding difficulties

Increased susceptibility to respiratory tract infections

Bowel/bladder weakness

Lower-than-normal weight

Developmental milestones , such as lifting the head or sitting up, can't be

reached

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AETIOLOGY

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AETIOLOGY

All muscular dystrophies are inherited (genetic) conditions (even though some

forms may form from an ex-novo mutation). Different muscular dystrophies follow

various inheritance patterns:

Duchenne muscular dystrophy (DMD)

It is inherited in an X-linked recessive pattern, meaning that the mutated

gene that causes the disorder is located on the X chromosome (one of the

two sex chromosomes, the other being Y) and is thus considered sex-linked.

In males (who have only one X chromosome) one altered copy of the gene

in each cell is sufficient to cause the condition. In females (who have two X

chromosomes) a mutation must generally be present in both copies of the

gene to cause the disorder (relatively rare exceptions, manifesting carriers,

do occur due to dosage compensation/X-inactivation). Males are therefore

affected by X-linked recessive disorders much more often than females.

A characteristic of X-linked inheritance is that fathers cannot pass X-

linked traits to their sons. In about two thirds of DMD cases, an affected

male inherits the mutation from a mother who carries one altered copy of the

DMD gene. The other one third of cases probably result from new mutations

in the gene. Females who carry one copy of a DMD mutation may have

some signs and symptoms related to the condition (such as muscle weakness

and cramping), but these are typically milder than the signs and symptoms

seen in affected males.

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Duchenne muscular dystrophy and Becker's muscular dystrophy are caused

by mutations of the gene for the dystrophin protein and lead to an

overabundance of the enzyme creatine kinase.

Myotonic Muscular Dystrophy

Autosomal dominant pattern of inheritance. Myotonic dystrophy results

from the expansion of a short repeat in the DNA sequence (CTG in one gene

or CCTG in another gene). In other words, the the gene defect is an

abnormally long repetition of a three- or four-letter "word" in the genetic

code. While the exact mechanism of action is not known, this molecular

change may interfere with the production of important muscle proteins

Limb-Girdle Muscular Dystrophy

Many forms of LGMD have been identified, showing different patterns of

inheritance (autosomal recessive vs. autosomal dominant). In an autosomal

recessive pattern of inheritance, an individual receives two copies of the

defective gene, one from each parent. The recessive LGMDs are more

frequent than the dominant forms. The dominant LGMDs usually show adult

onset. Some of the recessive forms have been associated with defects in

proteins that make up the dystrophin-glycoprotein complex.

The term "limb-girdle" is used to describe these disorders because the

muscles most severely affected are generally those of the hips and shoulders

-- the limb girdle muscles.

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The muscle weakness is generally symmetric, proximal, and slowly

progressive.

In most cases, pain is not present with LGMD, and mental function is

not affected.

LGMD can begin in childhood, adolescence, young adulthood or even

later. The age of onset is usually between 10 and 30. Both genders are

affected equally. When limb-girdle muscular dystrophy begins in

childhood the progression appears to be faster and the disease more

disabling. When the disorder begins in adolescence or adulthood the

disease is generally not as severe and progresses more slowly.

There is no sensory neuropathy or autonomic or visceral disfunction at

presentation.the specific dermatomes affected can be demonstrated

clinically,and although lower limb deep tendon reflexes and plantar

reflex are lost, abdominal reflexes are preserved

Congenital Muscular Dystrophy

Autosomal recessive or autosomal dominant; these diseases are sometimes

inherited through both parents and sometimes inherited from one parent.

They can also occur spontaneously because of a newly developed genetic

mutation

Congenital muscular dystrophy (CMD) is the term used to describe

muscular dystrophy that is present at birth. CMD describes a number

of autosomal recessive diseases of muscle weakness and possible joint

deformities, present at birth and slowly progressing. Life expectancies

for affected individuals vary, although some forms of CMD do not

affect life span at all.

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All such known dystrophies are genetically recessive and result from

mutations in a variety of different genes, including those encoding the

laminin-α2 chain, fukutin-related protein, LARGE and fukutin,

amongst others. Currently there is no cure. Physical and occupational

therapy, surgery, wheelchairs and other assistive technology may be

helpful.

Distal Muscular Dystrophy

May be autosomal dominant, (a faulty gene is inherited from one

parent); or autosomal recessive (when a faulty gene is inherited from

both parents).

Distal muscular dystrophy (or distal myopathy) is a group of disorders

characterized by onset in the hands or feet.

Many types involve dysferlin, but it has been suggested that not all

cases do

Facioscapulohumeral Muscular Dystrophy

More than 95% of cases of FSHD are associated with the deletion of integral

copies of a tandemly repeated 3.2kb unit (D4Z4 repeat) at the subtelomeric

region 4q35 of the Human genome of which a normal chromosome will

include between 11-150 repetitions of D4Z4. There are both heterochromatin

and euchromatin structures within D4Z4 and one putative gene called DUX4.

Inheritance is autosomal dominant, though up to one-third of the cases appear

to be the result of de novo (new) mutations. The heterochromatin is

specifically lost in the deletions of FSHD while the euchromatin structures

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remain. If the entire region is removed, there are birth defects, but no specific

defects on skeletal muscle. Individuals appear to require the existence of 11 or

fewer repeat units to be at risk for FSHD. Though the nature of the DNA

mutation is known, it has not been possible to identify a gene or mechanism

that causes FSHD and a novel position effect has been postulated to explain the

disease phenotype.

Emery-Dreifuss Muscular Dystrophy

Can be X-linked recessive, primarily affecting males, who inherit the disease

through their mothers. Another type is autosomal dominant, meaning it can

be inherited through either parent; an autosomal recessive type occurs when

a faulty gene is inherited from both parents.

Among the earliest features of this disorder are joint deformities called

contractures, which restrict the movement of certain joints. Contractures

become noticeable in early childhood to teenage years and most often

involve the elbows, ankles, and neck. Most affected individuals also

experience slowly progressive muscle weakness and wasting, beginning in

muscles of the upper arms and lower legs and progressing to muscles in the

shoulders and hips. A power chair or scooter or wheelchair may be needed

by adulthood.

Almost all people with Emery-Dreifuss muscular dystrophy have heart

problems by adulthood. In many cases, these heart problems stem from

abnormalities of the electrical signals that control the heartbeat (cardiac

conduction defects) and abnormal heart rhythms (arrhythmias). If untreated,

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these abnormalities can lead to an unusually slow heartbeat (bradycardia),

fainting (syncope), and an increased risk of stroke and sudden death.

Oculopharyngeal Muscular Dystrophy

May be autosomal dominant, meaning OPMD is inherited from one

parent; or autosomal recessive, occurring when a faulty gene is

inherited from each parent.

Abnormal vacuoles within muscle fibres. A distinction between OPD

and myasthenia gravis or mitochondrial myopathy must be made. The

absence of family history and the fluctuation of symptoms in

myasthenia gravis usually distinguish the two conditions

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PATHO-

PHYSIOLOGY

Duchenne muscular dystrophy and Becker muscular dystrophy:-39 | P a g e

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Devastating inherited neuromuscular disorder that affects one in 3300 live male

births. Although the responsible gene and its product, dystrophin, have been

characterized for more than 15 years, and a mouse model (mdx) has been

developed, comprehensive understanding of the mechanism leading from the

absence of dystrophin to the muscular degeneration is still debated. First,

dystrophin is considered a key structural element in the muscle fiber, and the

primary function of the dystrophin-associated protein complex is to stabilize

plasma membrane, although a role of signaling is still possible. Mechanically

induced damage through eccentric contractions puts a high stress on fragile

membranes and provokes micro-lesions that could eventually lead to loss of

calcium homeostasis, and cell death. Altered regeneration, inflammation, impaired

vascular adaptation, and fibrosis are probably downstream events that take part in

the muscular dystrophy and that probably vary a lot along species (i.e., mdx mice),

probands within families, stressing the importance of epigenic factors.

Because no etiologic therapy is available for Duchenne muscular dystrophy,

a better understanding of the primary and downstream mechanisms could prove

useful for producing new adjuvant treatments. All pathophysiologic mechanisms

are reviewed together with perspectives on management.

Facioscapulohumeral muscular dystrophy

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The exact pathophysiology of FSHD remains unknown as of March 2007. Muscle

histologic changes are nonspecific for the muscle wasting. There is evidence of

early inflammatory changes in the muscle, but reported responses to high dose

open labeled corticosteroid treatment have been negative. Animal studies of

anabolic effects of beta adrenergic agonists on models of muscle wasting led to an

open trial of albuterol (a beta adrenergic agonist) in which limited preliminary

results support an improvement of muscle mass and strength in FSHD. Preliminary

studies of muscle cultures suggest an increased sensitivity to oxidative stress, but

require further exploration.

Myotonic dystrophy

Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder.

There are two major forms:

DM1, for a century known as Steinert's disease

DM2, recognized in 1994 as a milder version of DM1.

These autosomal dominant conditions are among the most common forms of adult-

onset muscular dystrophy. However, DM is more than simply a muscular

dystrophy per se, since affected individuals may show cataracts, cardiac

conduction abnormalities, infertility, and insulin resistance. Furthermore, there is a

severe congenital form of DM1 with marked developmental disability.

Limb-girdle muscular dystrophy

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It is typically an inherited disorder, though it may be inherited as a dominant,

recessive, or X-linked genetic defect. The result of the defect is that the muscles

cannot properly form the proteins needed for normal muscle function. Several

different proteins can be affected, and the specific protein that is absent or

defective identifies the specific type of muscular dystrophy.

Emery-Dreifuss muscular dystrophy

Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular

dystrophy. The EMD and LMNA genes provide instructions for making proteins

that are components of the nuclear envelope, which surrounds the nucleus in cells.

The nuclear envelope regulates the movement of molecules into and out of the

nucleus, and researchers believe it may play a role in regulating the activity of

certain genes.

Most cases of Emery-Dreifuss muscular dystrophy are caused by mutations in the

EMD gene. This gene provides instructions for making a protein called emerin,

which appears to be essential for the normal function of skeletal and cardiac

muscle. Most EMD mutations prevent the production of any functional emerin. It

remains unclear how a lack of this protein results in the signs and symptoms of

Emery-Dreifuss muscular dystrophy.

Less commonly, Emery-Dreifuss muscular dystrophy results from mutations in the

LMNA gene. This gene provides instructions for making two very similar proteins,

lamin A and lamin C. Most of the LMNA mutations that cause this condition result

in the production of an altered version of these proteins.

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SIGNS

AND

SYMPTOMS

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Signs and symptoms

Main symptoms include:

Progressive muscular wasting

Poor balance

Frequent falls

Walking difficulty

Waddling gait

Calf deformation

Limited range of movement

Respiratory difficulty

Drooping eyelids

Gonadal

Loss of bladder control

Scoliosis (curvature of the spine and the back)

Inability to walk

Few or none of these symptoms may be present before diagnosis. Some types of

muscular dystrophy can affect the heart, causing cardiomyopathy or arrhythmias

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NOTE: There are different types of muscular dystrophy, each affecting different sets of muscles and resulting in

different degrees of muscle weakness.

Type of Muscular Dystrophy Description Symptoms

Duchenne muscular dystrophy • most common and the

most severe

• 1 out of every 3,500 boys

(Girls can carry the gene

that causes the disease, but

they usually have no

symptoms)

• begins to appear around age 5, as the pelvic

muscles begin to weaken

• muscles weaken in the shoulders, back, arms,

and legs

• eventually, the respiratory muscles are

affected, and a ventilator is required to assist

breathing

• kids: a life span of about 20 years, about one-

third of them experience learning disabilities

and a small number having mental retardation

Becker muscular dystrophy • less common and

progresses more slowly

• affects approximately 1 in

30,000 boys

• caused by insufficient

production of dystrophin

• begins during the teen years

• muscle weakness first begins in the pelvic

muscles, then moves into the shoulders and

back

• children: normal life span and can lead long,

active lives without the use of a wheelchair

Myotonic dystrophy • also known as Steinert's

disease

• most common adult form

of MD, although half of all

cases are diagnosed in

people under 20 years old

• caused by a portion of a

particular gene that is larger

than it should be

• can appear at any time during a child's life

• muscle weakness, myotonia (in which the

muscles have trouble relaxing once they

contract), and muscle wasting, where the

muscles shrink over time

• kids: can also experience cataracts and heart

problems

Limb-girdle muscular • affects boys and girls • usually begins when kids are between 8 and 45 | P a g e

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dystrophy equally 15 years old

• progresses slowly, affecting the pelvic,

shoulder, and back muscles

• severity of muscle weakness varies — some

kids have only mild weakness while others

develop severe disabilities and as adults need to

use a wheelchair

Facioscapulohumeral muscular

dystrophy

• can affect both boys and

girls

• first appears during the teen years

• tends to progress slowly

• muscle weakness first develops in the face,

making it difficult for a child to close the eyes,

whistle, or puff out the cheeks

• the shoulder and back muscles gradually

become weak, and kids have difficulty lifting

objects or raising their hands overhead

• over time, the legs and pelvic muscles also

may lose strength

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Figure no-1.6 shows the clinical features of the muscular dystrophy patient

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First Symptoms

Many kids with muscular dystrophy follow a normal pattern of development

during their first few years of life. But in time common symptoms begin to appear.

A child who has MD may start to stumble, waddle, have difficulty going up stairs,

and toe walk (walk on the toes without the heels hitting the floor). A child may

start to struggle to get up from a sitting position or have a hard time pushing things,

like a wagon or a tricycle.

Kids with MD often develop enlarged calf muscles (called calf pseudo

hypertrophy) as muscle tissue is destroyed and replaced by fat.

Gowers' sign is a medical sign that indicates weakness of the proximal

muscles, namely those of the lower limb. The sign describes a patient that

has to use his or her hands and arms to "walk" up his or her own body from

a squatting position due to lack of hip and thigh muscle strength.

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Figure no-1.6 shows the Gowers' sign

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INVESTIGATIONS

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INVESTIGATIONS

DNA test

The muscle-specific isoform of the dystrophin gene is composed of

79 exons, and DNA testing and analysis can usually identify the specific type of

mutation of the exon or exons that are affected. DNA testing confirms the

diagnosis in most cases.

Muscle biopsy

If DNA testing fails to find the mutation, a muscle biopsy test may be

performed. A small sample of muscle tissue is extracted (usually with a scalpel

instead of a needle) and a dye is applied that reveals the presence of dystrophin.

Complete absence of the protein indicates the condition.

Over the past several years DNA tests have been developed that detect more

of the many mutations that cause the condition, and muscle biopsy is not required

as often to confirm the presence of Duchenne's.

Serum creatine phosphokinase measurements:

Serum creatine phosphokinase levels are more than 10 times in the elevated

muscular dystrophy patients.

Prenatal tests

If one or both parents are 'carriers' of a particular condition, there is a risk

that their unborn child will be affected by that condition. 'Prenatal tests' are carried

out during pregnancy, to try to find out if the fetus (unborn child) is affected. The

tests are only available for some neuromuscular disorders. Different types of

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prenatal tests can be carried out after about 11 weeks of pregnancy. Chorion villus

sampling (CVS) can be done at 11–14 weeks, and amniocentesis after 15 weeks,

while fetal blood sampling can be done at about 18 weeks. Women and/or couples

need to consider carefully which test to have and to discuss this with their genetic

counselor. Earlier testing would allow early termination, but it carries a slightly

higher risk of miscarriage than later testing (about 2%, as opposed to 0.5%).

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MEDICAL

MANAGEMENT

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MEDICAL MANAGEMENT

There is no known cure for muscular dystrophy. Inactivity (such as bed

rest and even sitting for long periods) can worsen the disease. Physical therapy,

occupational therapy, orthotic intervention, speech therapy and orthopedic

instruments (e.g., wheelchairs, standing frames) may be helpful.

There is no specific treatment for any of the forms of muscular dystrophy. Physical

therapy to prevent contractures and maintain muscle tone, orthoses (orthopedic

appliances used for support) and corrective orthopedic surgery may be needed to

improve the quality of life in some cases. The cardiac problems that occur with

Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may

require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong

contraction) occurring in myotonic muscular dystrophy may be treated with

medications such as quinine, phenytoin, or mexiletine, but no actual long term

treatment has been found.

Occupational therapy assists the individual with MD in engaging in his/her

activities of daily living (self-feeding, self-care activities, etc) and leisure activities

at the most independent level possible. This may be achieved with use of adaptive

equipment or the use of energy conservation techniques. Occupational therapy may

implement changes to a person's environment, both at home or work.

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SURGICAL

TREATMENT

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Surgery

When contractures become more pronounced, tenotomy surgery may be

performed. In this operation, the tendon of the contractured muscle is cut, and the

limb is braced in its normal resting position while the tendon regrows. In FSH,

surgical fixation of the scapula can help compensate for shoulder weakness. For a

person with OPMD, surgical lifting of the eyelids may help compensate for

weakened muscular control. For a person with DM, sleep apnea may be treated

surgically to maintain an open airway. Scoliosis surgery is often needed in DMD

but much less often in other muscular dystrophies. Surgery is recommended at a

much lower degree of curvature for DMD than for scoliosis due to other

conditions, since the decline in respiratory function in DMD makes surgery at a

later time dangerous. In this surgery, the vertebrae are fused together to maintain

the spine in the upright position. Steel rods are inserted at the time of operation to

keep the spine rigid while the bones grow together.

When one muscle pulls much more strongly than its opposing muscle, it

may cause the joint to become partially dislocated, which is called

subluxation. Tenotomy is also performed to prevent or correct subluxation,

especially of the hip joint in cerebral palsy.

Chronic pain or bone deformity may prevent a person from moving a joint

through its full range of motion, leading to contracture.

Contracture also occurs in a variety of neuromuscular diseases, including

muscular dystrophies and polio. Degeneration of one muscle can allow the

opposing muscle to pull too hard across the joint, shortening the muscle.

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Figure no-1.8 shows the Tenotomy

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PHYSIOTHERAPY

ASSESMENT

PHYSIOTHERAPY ASSESSMENT

SUBJECTIVE:

Name:

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Age:

Sex:

Occupation:

Address:

Present medical history:

Chief complaint-

Family history:

Duration:

Onset: gradual/sudden.

Affected site: affected parts are noted.

Past medical history:

About history of vaccinations,

History of post infections,

History of SMT.

History of medical treatment.

History of any MMR diseases during birth/childhood.

History of drugs.

History of any viral, bacterial infections.

Health condition of the members.

Position of patient in the family.

Any history of associated diseases.

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Personal history:

Habits

Routine activities

Social history:

Socio- economic status

Place of living

OBJECTIVE:

On observation:

Built of the patient.

Position of the eyes.

Movements of the chestwall during expiration and

inspiration.

Any open injuries.

Any involuntarymovement of distal parts of the limbs.

Any external appliances brace, splints.etc.

Check for facial expressions.

Any deformity.

gait

Posture.

Normal activities.

On examination:

Higher function examination.

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Level of consciousness.

Orientation.

Speech.

Memory.

Identification

Behavior.

Intelligence.

Examination of cranial nerves: (3,4,7 etc.,)

3rd and 4th cranial nerves: (occulomotor and trochlear)

Study the patient’s head and ask to follow an object held arm length-full

range of horizontal and vertical movements are noted.

When light is shown in to the normal eye, only the pupil on that side

consists.

7th cranial nerve: (facial nerve)

Abnormal eye movements are noted

Asymmetrical elevation of one corner of mouth is noted.

Sensory system examination:

Superficial:

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Touch- soft or crude.

Pain- Superficial or deep.

Temperature- Hot OR Cold.

Deep:

Joint position.

Vibrations.

MOTOR EVALUATION:

Muscle grading.

0 – No activity is noted.

1 – Flicker of contraction.(trace)

2– Movement in elimination of gravity-One full range of motion

in gravity eliminated position.(poor)

3- movement against gravity-one full range of motion against

gravity.(fair)

4- Movements with minimal resistance. one full range of motion

against gravity with minimal resistance.(good)

5- Normal- one full range of motion

against gravity with maximal resistance.(normal)

Muscle tone –

Hypotonisity or hypertonicity.

Mostly hypotonicity is noted due to peripheral nerve involvement.

Muscle girth:

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Measured by using inch tape

Reflexes:

Upper limb (decreased) Lower limb(decreased)

Absent (-) Biceps Quadriceps

Depressed (+) Triceps Tibialis anterior

Normal (+ +) Brachioradialis Plantar response.

Brisk -

Brisk with clonus-

c.) Examination of co-ordination.

Co-ordination tests for upper and lower limbs- voluntary activities of

limbs are noted.

d.) Examination of status of skin:

Pale or scaly.

Examination of ROM:

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The active and passive range of motion of joints, which are affected,

should be assessed.

- Hip.

- Knee.

- Ankle

- pelvic.

- Shoulder

- Elbow

- Wrist

- Finger movements are noted.

Examination of gait:

High stepping gait.

Difficulties of gait.

Parameters of gait are noted.

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Examination of posture:

Check the posture of body in various positions standing, sitting, and lying.

Check for scoliosis.

Check for kyphosis.

Check for lardosis.

Examination of respiration:

Breathing pattern.

Examine diaphragmatic components

chest wall expansion

Lung function test.

Functional assessment:

Daily activities are noted

Dependent activities are noted.

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REHABILITATION

REHABILITATION

Rehabilitation is the utilization of existing capacities of the handicapped person by

the combined and co-ordinate use of medical, social, occupational, educational and

vocational measures to the optimum level of his functional abilities

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Muscular Dystrophy Association

These are words of belief, relied on by our Muscular Dystrophy Association India.

Planted in early 2000, we have blossomed comfort for a large cohort of Muscular

Dystrophy community. And of course we have diagnosis and researches done to

ease the hold of the disease. With able support from more like minds, things would

prove ever positive.

Neither so early, nor late as well, the Muscular Dystrophy Association India is

one of the very few of its kind in India. Since its first breath on the 5th of February

2000, the association has itself programmed with the duty to help those afflicted by

the disease – MUSCULAR DYSTROPHY.

When the idea of such an association was kindled by Dr. Gunter

Schuebraundt on his visit to India, it was Dr. V. Viswanathan, Paediatric

Neurologist from KKCTH1, Chennai, Dr. Kalpana Gowrishankar, Geneticist,

KKCTH, Mr. Ganapathi and Ms. Kavitha, KKCTH, Mr. V. R. Anil Kumar, Rotary

Club (Madras South) and few other personalities with similar frequencies to

venture into the thought and realizing what was just an Association all but just in

mind.

With the case statistics increasing every now and then, the growing

importance on our organization have led us to where we are now. The support

group consists of the Patients, Parents, Doctors, Scientists, Volunteers and all of

those interested in alleviating the status quo of the situation and who can positively

contribute to the affected.

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After six long years of experience, involvements and a shift of the

Association from its initial base at KKTCH to SMF2, Chennai, in the midway, we

have managed to establish a large cohort of Patients, Parents, and Volunteers and

like minds from all over South India. All of the patients who have registered with

us have been examined in detail and investigated on biochemical and genetic

aspect and diagnostic label established

Efforts haven’t stopped with helping the parents and children.The biggest

advantage would be meeting the challenges and sharing across culture and borders.

We are actively linked with International bodies working to find a cure for the

disease. We are one of the chosen centres for the Global programme on Duchenne

Muscular Dystrophy called the CINRG3.

Basic objectives include,

Psychological support to Patients and Parents

Dissemination of information on the disease

Promote interaction and communication amongst Doctors, Patients, Parents

and Scientists

Promote Research and Development for these ‘orphan’ disease

Create a National task Force for Public awareness

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MEDICAL

Members are :

Physiatrist

Orthopedic surgeon

Neurosurgeon

Plastic surgeon

Psychiatrist

Pediatrician

Obstretrician

Geneticist

Neonatologist

Rheumatologist

Cardiologist

Cardiac surgeon

General surgeon

Oncologist

Urologist

Ophthalmologist

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PARAMEDICAL

Physiotherapist

Occupational therapist

Creative movement therapist

Recreational therapist

Prosthatist –orthotist

Rehabilitation nurse

Speech pathologist

Psychologist

Biomedical engineer

Music therapist

SOCIO VOCATIONAL

Social worker

Vocational counselor

Vocational evaluator

Skilled instructor

Placement officers

Child development specialist

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Employement agencies

Some of the most important staff for the muscular dystrophy is 1.Physiotherapist

2. Occupational therapist 3.Rehabilitation nurse 4.Prosthatist –orthotist

Physiotherapist:-

Role:

a. To decrease the low back pain

b. Maintain the muscle power

c. Maintain ROM

d. Prevent deformities and contractures

e. Nutritional advise to prevent the development of obesity

f. Prevent the respiratory muscle complications

g. Maintain functional status

h. Psychological confidence

Occupational therapist:

The therapist should help return him to his occupational life and adapt him to daily

living

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Rehabilitation nurse

Those nurses help him to arrange his needs and encourage and motivate the patient

in positive way

Prosthatist –orthotist:-

Those doctors will arranges the needed braces and splint to prevent him to

contracture and deformities.

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PHYSIOTHERAPY

MANAGEMENT

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PHYSIOTHERAPY MANAGEMENT

PROBLEM LIST:-

Low back pain

Decreased muscle power

Decreased range of motion

Development of contractures and deformities

Develop muscle wasting

Reduced respiratory muscle strength

Development of chest infections

Decreased functional status

AIMS:-

1. To decrease the low back pain

2. Maintain the muscle power

3. Maintain ROM

4. Prevent deformities and contractures

5. Nutritional advise to prevent the development of obesity

6. Prevent the respiratory muscle complications

7. Maintain functional status

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1. Ambulatory stage.

2. Wheel chair stage.

3. Bed ridden stage.

Ambulatory stage

INTERVENTION:-

TO DECREASE LOWBACK PAIN:-

SWD applied to back to decrease pain

Spinal extension exercises should be encouraged to increase strength of

muscle

Encourage symmentrical sitting for postural correction

TO MAINTAIN MUSCLE POWER

By using MMT,strengthening of weakened muscles

Most commonly proximal muscles are involved so strengthen the proximal

muscles

TO MAINTAIN ROM

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Active movement and active assisted movements should be encouraged to

maintain joint

PNF technique may be useful to increase ROM

TO PREVENT DEFORMITIES AND CONTRACTURES

The two joint muscles are most prone to developing significant contractures

Early in the course of disease process, a home program must be instituted to

include ROM, stretching and positioning

Both parents and child should get the education about the expected changes

in muscle balance

How they can pay an active role in preventing or limiting the impact of

contractures

Initially encourage the active range of motion exercises

If active ROM becomes more difficult, parents should assist the child to

move his limbs, to stretch the muscle and particular structures

The stretching program should include static stretching techniques with

prolonged mild tenson to affect both visco elastic and plastic properties of

muscle.

Positions should encouraged to prevent contractures

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Once the child has significant hip flexor or IT band contracture, position the

child in a standing frame during several hours helps to provide prolonged

stretch to hip knee ankle musculature.

Encourage night splinting to control plantar flexion contracture.

Encourage long leg splint at night to prevent knee flexion contracture.

By using thoraco lumbo sacral arthosis to prevent kypotic abnormality.

effective bracing minimizes abnormal postures

PREVENT RESPIRATORY COMPLICATIONS AND IMROVE

RESPIRATORY FUNCTIONS

The child should improve breathing efficiency by the family by teaching

breathing exercises

Stressing diaphragmatic breathing

Full chest expansion exercises

Air shift and rib cage stretching

Encourage the child by playing with hand hold incentive Spiro meter units,

blowing bobbles and pin wheels.

If there are any secretions accumulated in lungs the family should be taught

postural drainage.

IMPROVE FUNCTIONAL STATUS AND MAKE THE INDIVIDUAL

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Encourage forced swimming

Active and resistive exercise program

Low frequency electric stimulation improves the functional status of

individual

HOME ADAPTATIONS

Rise the height of the bed, chair, toilet so that movement from one place to

another place easier.

A boat with firm mattress under it make movement and handling easier

Recreational activities include swimming riding TV Games photography

ball activities, cycling etc., should be encouraged

Bilateral KAFO use to relax.

WHEEL CHAIR STAGE AND BED BOUND STAGE:

Functional Training:-

Improving mobility function with specific emphasis on improving mobility

of axial structures, the head, trunk, hips, and shoulders. Progression to more

diffucult motor activates should be gradual. The more severely involved

patient may benefit initially from assisted movements progressing to active

movements (e.g.; the PNF technique e if R1) to improve initial motor

performance.

Moving in bed (i.e,. rolling, supine to sit transitions) are essential skills that

are often very difficult owing to rigidity and bradykinesia. Sidelyng rolling

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activities that emphasize segmental rotation patterns (i.e,. isolated upper and

lower trunk rotations) shouyld be practiced rather than a log-rolling pattern.

Patients with very stiff trunks may benefit from compensatory rolling

strategies using the UE or LE to reach over and initialed the movement (eg

DIF patterns of the UE or LE to reach over and initiate the movement (eg

DIF patterns of the UE or LE).

Sitting posture can be facilitated through exercises designed to improve

pelvic mobility as the patient with PD typically sits with a stiff and posterior

titled pelvis.

Anterior and posterior tilts, side to side tilts, pelvic clock exercises can be

practiced while sitting on a therapy ball. These activities can then be

progressed to sitting on a stationary surfacce such as a mart table using an

inflatable disc to finally no apparatus,

Respiratory Training:-

Respiratory dysfunction is linked to morbidity and mortality in patients with

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MD.

For these patients a comprehensive pulmonary rehabilitation programme

should be instituted.

Components include diaphragmatic breathing exercises, Air shifting

techniques, and exercises that recruited neck, shoulder, and trunk muscles.

The patient should be instructed in deep breathing exercises to improve chest

wall mobility and vital capacity.

Air shifts are promoted to lesser winterer areas of the lung for example basal

expansion can be promoted rising manual stretch and resistance to those

segments.

Upper body resistance training exercises are indicated.

Chest wall mobility can be improved by using PNF UE bilateral

symmetrical D2 flexion and extension patterns.

Motor learning stratagies:-

Walking patterns can be improved with focused instructions of "swing your

arms" walk fast or take large steps for the patient with advanced disease and

cognitive deficits, repetitive drill like practice should be used.

Visual cues inclued stationary floor markings.

Dynamic transportable cues.

UE movements were improved by reaching toward a moving target., eg a

rolling ball descending down a track.

Rhythmic auditory stimulation includes use of a metronome beat or a study

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beat from musical device.

Pulsed cues to the ear lobe or the hand a form of tacktile cueing.

Group and home exercises:-

Group exercises classes can be valuable for patients with MD.

The patient can begin in the seated position and progressive standing, using

light, touchdown support of the back of the chair.

Stretching exercises involving large joints used as initial warm up activites.

Well structured low impact aerobics are an appropriate focus for a group

class, for eg patient can march in place first in sitting then in standing.

Walking with an emphasis on taking large steps high steps.

The HEP includes interventions already discussed with exercises designed to

improve relaxation mobility, flexibility, strength, and cardiopulmory

function.

Standing corner wall stretches can also be used to maintained stretch on

upper trunk flexors.

Use of cane can be effective in promoting over head motions.

Psychosocial issues

The progressive nature of PD necessitates frequent personal and social

adjustments and affects all aspects of life for both patient and family.

The principle goal for team members is to assest the patient and family in

their understanding of the disease and in developing insides and adjustments

that leads to more effective self management.

Feelings of hopelesness and dependency are reduced as patient develops a

sense of control over his life.

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The therapist over all approach needs to be positive and supportive.

Community support groups are available for patients and their families.

Educate the parents abou the condition and tell the complications regarding

the problems which are faced furthers and encourage and motivate to do

home exercises which are needed.

Care giver shold encourage the patient to prevent further detoriation.

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PROGNOSIS

PROGNOSIS

The prognosis for people with muscular dystrophy varies according to the

type and progression of the disorder. Some cases may be mild and progress very

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slowly over a normal lifespan, while others produce severe muscle weakness,

functional disability, and loss of the ability to walk. Some children with muscular

dystrophy die in infancy while others live into adulthood with only moderate

disability. The muscles affected vary, but can be around the pelvis, shoulder, face

or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend

to occur in early childhood.

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SUMMARY

SUMMARY

Muscular dystrophies (MD) are inherited disorders characterized by progressive

weakness and degeneration of the skeletal or voluntary muscles which control

movement, without a central or peripheral nerve abnormality. The muscles of the

heart and other involuntary muscles are also affected in some forms of MD, and a

few forms involve other organs as well.

10 Types of muscular dystrophy are seen in the world depending upon the part that

is involved.

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2. Becker's muscular dystrophy

3. Congenital muscular dystrophy

4. Distal muscular dystrophy

5. Emery-Dreifuss muscular dystrophy

6. Facioscapulohumeral muscular dystrophy

7. Limb-girdle muscular dystrophy

8. Myotonic muscular dystrophy

9. Oculopharyngeal muscular dystrophy

10. Spinal muscular atrophy

Among the above types Duchenne muscular dystrophy is the most dangerous. The

Beckers is the second most dangerous but the life span of the Duchenne muscular

dystrophy is 12-20 but in the Beckers type above 20 years. In the Duchenne

muscular dystrophy the patient may die with respiratory complications.

No medications are available for muscular dystrophy but research are made to

control the disease progression.

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BIBLIOGRAPHY

References

1. 1991 Harrison's Principles of Internal Medicine III rd edition.

2. "The muscular dystrophies" III rd edition 1995.

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3. 1991 Harrison's Principles of Internal Medicine IV rd edition December

2004

4. Rehabilitation text “Muscular Dystrophy Association”.

5. http://ptct.client.shareholder.com/releasedetail.cfm?ReleaseID=448803

6. http://www.parentprojectmd.org/site/

7. R.M. Lehman & G.L. McCormack, 2001. Neurogenic and Myopathic

Dysfunction pp. 802-803.

8. Guillaume-Benjamin-Armand Duchenne 1987 Neurogenic and Myopathic

Dysfunction pp.789.

9. http://en.wikipedia.org/wiki/Muscular_dystrophy.

10.“Muscular Dystrophy Campaign” Retrieved 9 April 2007.

11."The muscular dystrophies". Lancet 359 (9307): 687–695.

12.National Institute of Neurological Disoders and Stroke .

13."Specific sequence variations within the 4q35 region are associated with

facioscapulohumeral muscular dystrophy".

14.“Wyeth Initiates Clinical Trial with Investigational Muscular Dystrophy

Therapy MYO-029.”

15.“Muscular Dystrophy Association's” website in Greece 2000.

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