musculat dystrophy

8/4/2019 MUSCULAT DYSTROPHY

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MUSCULAR DYSTROPHY

DEFINITION

Muscular dystrophy is a group of disorders that involve progressive

muscle weakness and loss of muscle tissue.

Those classified as the muscular dystrophies all have in common a

progressive degeneration of striated muscle with no associated

abnormality of central nervous system.

CLASSIFICATION OF THE MUSCULAR DYSTROPHIES ACCORDING TO

PATTERN OF INHERITANCE.

1) X-LINKED RECESSIVE

Duchenne Muscular Dystrophy

Becker Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy

2) AUTOSOMAL RECESSIVE

Limb-Girdle Muscular Dystrophy

Congenital Muscular Dystrophy

3) AUTOSOMAL DOMINANT

Facioscapulohumeral Dystrophy

Myotonic Dystrophy


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DUCHENNE MUSCULAR DYSTROPHY

Most common type and affects BOYS.

Caused by genetic problem that makes protein-DYSTROPHIN ( which

help cells keep their shape and length)

Symptom start usually by the age of 2-6 yrs old, and by the time 12 yrs

old, used a wheel chair.

Will develop scoliosis and tightness in joints

Over time, even muscles that control breathing get weaker, and patient

may need ventilator to breathe.

Lungs and heart specialist may need.

PATHOPHYSIOLOGY

The gene that codes for the protein dystrophin is mutated, so little or no

dystrophin is present in the sarcolemma.

The dystrophin gene is located on the short arm of chromosome X near

the p21 locus and codes for the large protein Dp427, which contains 3685

amino acids.

Dystrophin accounts for only approximately 0.002% of the proteins in

striated muscle, but it has obvious importance in the maintenance of themuscle's membrane integrity (Hoffman et al).

Dystrophin aggregates as a homotetramer at the costomeres in skeletal

muscles, as well as associates with actin at its N-terminus and the DAG

complex at the C-terminus, forming a stable complex that interacts with

laminin in the extracellular matrix (Hoffman et al). .

Lack of dystrophin leads to cellular instability at these links, with

progressive leakage of intracellular components; these results in the high

levels of creatine phosphokinase (CPK) noted on routine blood workup of

patients with Duchenne MD.

Without the reinforcing effects of the the dystrophin, the sarcolemma tears

easily during muscle contraction, causing muscle rupture and die.


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There is decrease in the muscle fibers, necrosis, infiltration of fat cells and

increase in connective tissues.

Muscles eventually reduced to fat and connective tissues.

(pseudohypertrophy).

CLINICAL FEATURES

Symptoms vary with the different types of MD.In Duchenne MD,

unless a sibling has been previously affected to warrant a high index of

suspicion, no abnormality is noted in the patient at birth, and

manifestations of the muscle weakness do not begin until the child begins

to walk. Three major time points for patients with Duchenne MD are

when they begin to walk, when they lose their ability to ambulate, and

when they die.

The child's motor milestones may be at the upper limits of

normal, or they may be slightly delayed. Some of the delays may be

caused by inherent muscle weakness, but a component may stem from

brain involvement. Although the association of intellectual impairment in

MD has long been recognized, it was initially thought to be a result of

limited educational opportunities (Prosser et al, 1969). In addition to mental deficits, another milestone delay is the

patient's age at ambulation. Children with Duchenne MD usually do not

begin to walk until about age 18 months or later. In the Dubowitz study

(1995), 74% of children with Duchenne MD manifested the disease by age

4 years. By age 5 years, awareness increases as the disease is

manifested in all affected children when they experience difficulty with

school-related activities (eg, getting to the bus, climbing stairs, reciprocal

motions during activities).

Other early features include a gait abnormality, which classically

is a waddling, wide-based gait with hyperlordosis of the lumbar spine and

toe walking. The waddle is due to weakness in the gluteus maximus and

gluteus medius muscles and the patient's inability to support a single-leg


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stance. The child leans the body toward the other side to balance his or

her center of gravity, and the motion is repeated with each step. Hip

extensor weakness also results in a forward tilt of the pelvis, which

translates to a hyperlordosis of the spine to maintain posture. The child

then walks on his or her tiptoes because it is easier to stay vertical with an

equinus foot position than on a flat foot, although no real tendon Achillis

contracture exists at this early point.

Gradually, noticeable difficulty with step taking by the child is

observed. Frequent falls without tripping or stumbling often occur and

are described as the feet being swept away from under the child. The child

then begins having problems getting up from the sitting or supine position,

and he or she can rise to an upright stance only by manifesting the Gower

sign.

Gowers sign.

While still ambulatory, the child may have minimal deformities, including

iliopsoas or tendo Achillis tightness. Mild scoliosis may be present if the

child has an asymmetrical stance. Upper-extremity involvement rarely

occurs in the beginning, although proximal arm muscle weakness may be

evident on manual strength testing. When upper-extremity involvement

manifests in later stages of Duchenne MD, it is symmetrical and, along

with distal weakness, usually follows a rapid worsening of the child's

condition toward being wheelchair bound.


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The second important phase in Duchenne MD is the loss of ambulation.

This usually occurs between the ages of 7 and 13 years, with some

patients becoming wheelchair bound by age 6 years. If children with MD

are still ambulating after age 13 years, the diagnosis of Duchenne MD

should be questioned, because these patients usually have Becker MD,

the milder form of MD.

Other clinical features include:

Muscles weakness that slowly gets worse

Frequent fall.

Delayed development of muscle motor skills

Problems walking (delayed walking)

Difficulty using one or more muscle groups

Hypertrophied of calf muscles

Mental retardation (only in some types of conditions)

Hypotonia (low muscle tone)

Joint Contractures (clubfoot, claw hand or others)

Scoliosis (curves spine)

COMPLICATIONS

Complications of MD usually include early wheelchair dependence in patients

who develop minor musculoskeletal injuries (eg, ankle sprain) and those who are

immobilized. Prolonged immobilization worsens the clinical weakness caused by

MD and ultimately results in the patient's non-ambulatory status.

MEDICAL MANAGEMENT

There are no known cures for the various muscular dystrophies. The goal

of treatment is to control symptoms.

Corticosteroids- taken by mouth are sometimes prescribed to children to

keep them walking for as long as possible and to reduce muscle

degeneration.


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Immunosuppressant- delay damage to dying muscle cell.

Antibiotic- fight respiratory infections

Orthopedic appliances such as braces and wheelchairs can improve

mobility and self-care abilities.The orthopedic problems in children with

MD are progressive weakness with loss of ambulatory status, soft-tissue

contractures, and spinal deformities. The role of the orthopedic surgeon is

to correct the deformities and to help maintain the dystrophic child's

ambulatory status for as long as possible, usually 1 to 3.5 years (Brooke

et al, 1989; Heckmatt et al, 1985). The modalities available to obtain these

goals have been well outlined by Drennan (1990); they include functional

testing; physical therapy; use of orthoses; fracture management; soft-

tissue, bone, and spinal surgeries; use of a wheelchair when indicated;

and genetic and/or psychological testing.

Surgery on the spine or legs may help improve function.

Despite modern advances in gene therapy and molecular biology, MD remains

incurable. With proper care and attention, patients have a better quality of life

than they would otherwise, but most still die by the time they are age 30 years,

usually as a result of cardiopulmonary failure.


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CASE STUDY ASESSMENT

PATIENTS PROFILE

Date of assessment: 12. September. 2007

Unit: Pediatric Gym of Physiotherapy Department, Hospital Malacca.

Name: Kid

Age: 9 yrs

Gender: Male

Race: Chinese

Hometown: Bukit Baru, Melaka

R/N: 5590

Drs Diagnosis: Duchene Muscular Dystrophy

Drs Management: Medication

Problem: Weakness of both lower limbs


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SUBJECTIVES ASESSMENT

1) Patients complain:

Mother complains that her child had weakness at both lower limb.

Her child easily fatigue and had difficulty to stand from sitting, to sit from

supine lying and difficulty of climbing stairs.

2) Current Hx:

Mother claimed that her child had frequently fall and unable to rise back

easily since two years ago.

Had being diagnosed as Duchene Muscular Dystrophy and being referred

to physiotherapy treatment.

3) Past Medical Hx:

-nil-

4) Pain Scale: No pain at the limbs and joints.

4) Home/ social situation:

Youngest in family of 3 siblings.

Loves to play, R.C car, badminton, cycling, and comp. games.

A vegetarian and usually take bowl of rice daily and 2-3 liters of

water/day.

At school, able to socialized but doesnt involved in any physical activity.

Using night splint while sleeping at night.

5) General Health:

-Good-


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6) Ix/MRI/X-Ray:

Latest on March 2007- unavailable

7) Medication:

Use alternative medicine- Chinese herbs purposely for legs and waist.

OBJECTIVES ASESSMENT

1) Observation

General:

A thin and medium size of 9 yrs Chinese boy walks into gym with

abnormal gait and hyperextended trunk.

Moody and give cooperation after being persuaded for several times.

Local:

Genu-valgus leg

Muscle wasting of both LL. Hypertrophied calf muscles.

2) Vocalization:

Speak Mandarin fluently BUT little bit Malay.

Understand Malay and English minimally.

3) Hearing:

NAD

4) Vision:

NAD


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5) Palpation:

TA tightness of both ankle.

No contractures of the joints.

No swelling of the joints and body.

No redness at the joints and body.

6) Range of Motion:

Joint Active

Shoulder

1) Flexion

2) Extension

3) Abduction

4) Adduction

5) Elevation via

flexion

6) Elevation via

abduction

Elbow

Flexion

Extension

Supination

Pronation

Wrist

Flexion

Extension

Ulnar dev.

Rt

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM


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Radialdev. AFROM AFROM

Joint Active

Phalanges

Flexion

Extension

Abduction

Adduction

Thumb

opposition

Hip

Flexion

Extension

Abduction

Adduction Int.rotate

Ext.rotate

Knee

Flexion

Rt

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM

AFROM


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Extension AFROM AFROM

Joint Active Passive

Ankle

Dorsiflexion

Plantar-flexion

Eversion

Inversion

Rt

0-5

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

Rt

0-15

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

Interpretation: Limited R.O.M of ankle dorsiflexion due to TA tightness.


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7) Muscle tone:

Both upper limbs: Normal

Both lower limb: Normal

8) Muscle power (Oxford Scale Classification)

Upper limb Grade

a) Shoulder

Flexors

Extensors

Abductors

Adductors

b) Elbow

Flexors

Extensors

Supinators

Pronator

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

c) Wrist

Flexors

Extensors

Radial deviators

Ulnar deviators

d) Fingers

Flexors

Extensors

Abductors

Adductors

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

Lower limb Grade


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a) Hip

Flexors

Extensors

Abductors

Adductors

Int. rotators

Ext. rotators

b) Knee

Flexors

Extensors

Ankle

Dorsi flexors

Plantar flexors

Inverters

Everters

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

3/5

Interpretation: Reduce muscle power due to myopathic disorder.9) Reflexes

Interpretation: A low normal, diminished reflex and negative Babinski sign.

Tendons Grade

1) Biceps 1+

2) Triceps 1+

3) Knee jerk 1+

4) Tendon Achilles 1+

5) Babinski -ve


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10. Posture

Lumbar lordosis with shoulder and upper trunk thrust backward, with

lateral sway back of the trunk.

11) Gait

Type: high stepping/ waddling gait

a) Stance phase:

Increase in anterior pelvic tilt

Reduce in hip extension

b) Swing phase:

Increase in hip flexion characterized by high stepping gait/waddling gait.

Lack of dorsiflexion

12) Functional Ability

Test for functional ability based on ability to walk.

Grade Functional ability

1 Walks and climbs stairs without assistance

2 Walks and climbs stairs with aid of a railing

3 Walks and climbs stairs slowly with the aid of a railing (over

25 sec for eight standard steps)

4 Walks unassisted rise from chair but cannot climb stairs.


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5 Walks unassisted but cannot rise from chair and stairs.

6 Walks only with assistance or walks independently with long

leg braces.

7 Walks in long leg braces but requires assistance for balance.

8 Stands in long leg braces but unable to walk even with

assistance.

9 Is in wheelchair. Elbow flexors more than antigravity.

10 Is in wheelchair. Elbow flexors less than antigravity.

Also has difficulty to stand from squatting (Gowers sign)

Interpretation: Grade 4

13. Balance Testing

Position Static Dynamic

a) Sitting Good Good

b) Standing Fair Fair

c) Walk standing Fair Fair

Interpretation: Reduce stability in standing and walk standing due to muscle

weakness.


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PROBLEM LISTING

1. Reduce muscle strength of both lower limbs.

2. Lordotic posture while walking and standing.

3. Tightness of Tendon Archilles.

4. Difficulty of climb stairs and stand from squatting.

5. Waddling gait.

PHYSIOTHERAPIST IMPRESSION

4. Reduce muscle strength of both lower limbs due to myopathic disorder.

5. Lordotic posture while walking and standing due to relative postural

alignment of the upper body.

6. Tightness of Tendon Archilles due to weakness of ankle dorsiflexors.

4. Difficulty of climb stairs and stand from squatting due to weakness of

extensor muscles, particularly gluteus maximus.

5. Waddling gait due to weakness of quadriceps, hip extensors and ankle

dorsiflexors.

AIM OF TREATMENT

Short term goal:

1. To reduce muscle tightness.

2. To prevent deformity and soft tissue contracture.

3. To prevent immobility and inactivity, both mental and physical.

Long term goal:

1. To ensure the child practice a healthy life- style.

2. To prevent secondary complication.

PLAN OF TREATMENT

1. Breathing exercise

2. Stretching exercise


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3. Mobilizing exercise

4. Home exercise program (HEP) and patient education.

METHOD OF TREATMENT

1) Breathing exercise

Position: sitting/standing

Method: Deep breathing exercise with 6

repetition 3x/day.

2. Stretching exercise

Active stretching:

Child standing with pelvis forwards, arms on the wall, heels remain on the

ground with knee fully extended, hold for 10sec.

Modified push-up done over a wedge or double-pillow with 10 rep, 10 sec

hold.

Passive stretching:

Stretching of calf muscles while pt in supine,10rep, 10 sec hold.

Stretching of iliotibial band, pt in prone and knee is flexed and hip fully

extended. Pressure given to the pelvis to minimize the lumbar spine

movement. Repeat for 10 times, with 10 sec hold.

Stretching of hamstring, pt in supine. Knee extended, hip flexed to 60.

Repeat for 10 times, with 10 sec hold.

3) Mobilizing exercise

Throwing and kicking gym ball for 15 minutes.

Pulley exercise for 15minutes.

Cyling on stationary bicycle for 15 minutes.


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4) Home exercise program

Breathing exercise with 6 rep/3x/day.

Encouraged the child to play a wind instrument, play games such as

blowing a ping pong ball around obstacles to obtain good expansion of the

lungs.

Stretching exercise done actively of passively at home to prevent soft

tissue contracture

5) Carer Education

Advice mother to make sure her child do the exercise as taught at

home regularly.

Encourage the child not to give up while doing the exercises.

REASESSMENT ON 14. SEPT. 07

S:

Mother claimed that her child do slight exercise at home.

Complain of fatigue.

O:

Pt gives good response

Walk with waddling gait, lumbar lordosis with shoulder and upper

trunk thrust backward, with lateral sway back of the trunk.

1) R.O.M:


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Both UL, hip, and knee: AFROM

Interpretation: limited R.O.M of ankle d/f due to TA tightness.

2) Muscle tone:

Both UL: Normal

Both LL: Normal

3) Muscle power ( Oxford Scale Classificaton) Both UL: 3/5

Both LL: 3/5

4)Posture



6) Gait

Type: high stepping/ waddling gait

a) Stance phase:

Increase in anterior pelvic tilt

Reduce in hip extension


Ankle

Dorsiflexion

Plantar-flexion

Eversion

Inversion

Rt

0-5

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

Rt

0-15

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM


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b) Swing phase:




Test for functional ability based on ability to walk









leg braces.



assistance.




Still has difficulty to stand from squatting (Gowers sign)


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9) Reflexes

Interpretation: A low normal, diminished reflex and negative Babinski sign.

A:

Reducemuscle power

and poor

mobility might

due to

muscular

disorder.

P:

1) Breathing exercise

Position: sitting/standing

Method: Deep breathing exercise with 6 repetition.

Tendons Grade

1) Biceps 1+

2) Triceps 1+

3) Knee jerk 1+


5) Babinski -ve


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2) Passive stretching:

a) Stretching ofcalf muscles while pt in supine,10rep, 10 sec hold.

b) Stretching ofiliotibial band, pt in prone and knee is flexed and hip fully

extended. Pressure given to the pelvis to minimize the lumbar spine movement.


c) Stretching ofhamstring, pt in supine. Knee extended, hip flexed to 60.







Active and passive stretching exercise with 10 rep/3x/day.

Mobilizing exercise, walking at the park for 15 minutes.

4) Patient education Advice patient to do the exercise as taught regularly and encourage

the child to continue the exercises at home.

REASESSMENT ON 18.SEPT. 07

S:

Mother claimed that her child willing to do some exercises at home.

Complain of fatigue after doing the exercise.

O:

Pt gives good response.


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Still walk with waddling gait, lumbar lordosis with shoulder and

upper trunk thrust backward, with lateral sway back of the trunk.

1) R.O.M:

Both UL, hip, and knee: AFROM

Interpretation: limited R.O.M of ankle d/f due to TA tightness.

2) Muscle tone:

Both UL: Normal Both LL: Normal

3) Muscle power (Oxford Scale Classificaton)

Both UL: 3/5

Both LL: 3/5

4) Posture



6) Gait


Ankle

Dorsiflexion

Plantar-flexion

Eversion

Inversion

Rt

0-7

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM

Rt

0-15

AFROM

AFROM

AFROM

Lt

AFROM

AFROM

AFROM

AFROM


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Type: high stepping/ waddling gait.

a) Stance phase:

Increase in anterior pelvic tilt.

Reduce in hip extension.

b) Swing phase:




Test for functional ability based on ability to walk









leg braces.



assistance.




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Still has difficulty to stand from squatting (Gowers sign)

9) Reflexes

Interpretation: A low normal, diminished reflex and negative Babinski sign due to

myopathic

disorder.

A:

Reduce muscle power and poor mobility might due to muscular disorder.

Able to do the active stretching exercise better.

P:

1) Breathing exercise with thoracic expansion

Position: Standing

Method: Deep breathing exercise with elevation of both arm, 6 repetition.

Tendons Grade

1) Biceps 1+

2) Triceps 1+

3) Knee jerk 1+


5) Babinski -ve


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2) Passive stretching:

a) Stretching ofcalf muscles while pt in supine,10rep, 10 sec hold.

b) Stretching ofiliotibial band, pt in prone and knee is flexed and hip fully

extended. Pressure given to the pelvis to minimize the lumbar spine movement.


c) Stretching ofhamstring, pt in supine. Knee extended, hip flexed to 60.







Active and passive stretching exercise with 10 rep/3x/day.

Mobilizing exercise, walking at the park for 15 minutes.

4) Patient education

Advice patient to do the exercise as taught regularly and encourage

the child to continue the exercises at home.

LITERATURE REVIEW


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musculat dystrophy

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