Hereditary Hereditary diseases of diseases of

nervous nervous systemsystem

Diseases withDiseases with involvement involvement of nervous – muscle of nervous – muscle synapse:synapse:

– MyastheniaMyasthenia– Myasthenic Myasthenic

syndromessyndromes

Myasthenia gravis Myasthenia gravis (MG)(MG)

EtiologyEtiology How the autoimmune disorder How the autoimmune disorder starts is not known starts is not known

IIn about 15% of patientsn about 15% of patients there is an there is an encapsulated benign tumorencapsulated benign tumor - - thymoma. thymoma.

There are few familial cases of the There are few familial cases of the disease, but disproportionate frequency disease, but disproportionate frequency of some HLA haplotypes (B8, DR3, of some HLA haplotypes (B8, DR3, DQB1) in MG patients suggests that DQB1) in MG patients suggests that genetic predisposition may be importantgenetic predisposition may be important

Myasthenia gravis Myasthenia gravis (MG)(MG)

is caused by a defect of is caused by a defect of neuromuscular transmission due to neuromuscular transmission due to

an antibody-mediated attack on an antibody-mediated attack on nicotinic acetylcholine receptors nicotinic acetylcholine receptors

(AchR) at neuromuscular junctions. (AchR) at neuromuscular junctions. It is characterized by fluctuating It is characterized by fluctuating weakness that is improved by weakness that is improved by inhibitors of cholinesterase.inhibitors of cholinesterase.

PathogenesisPathogenesis

Loss of receptors due to complement-mediated Loss of receptors due to complement-mediated lysis of the membrane and to acceleration of lysis of the membrane and to acceleration of normal degradative processes (internalization, normal degradative processes (internalization, endocytosis, lysosomal hydrolysis) with endocytosis, lysosomal hydrolysis) with inadequate replacement by new synthesis inadequate replacement by new synthesis

Loss of AChR and the erosion and simplification Loss of AChR and the erosion and simplification of the endplatesof the endplates

Abnormally sensitive to the competitive Abnormally sensitive to the competitive antagonist curareantagonist curare

Most AChR antibodies are directed against Most AChR antibodies are directed against antigenic determinants other than the ACh antigenic determinants other than the ACh binding sitebinding site

Destruction of the receptorsDestruction of the receptors

Clinical featuresClinical features

According to theAccording to the course of the course of the diseasedisease::– ProgressiveProgressive– StationaryStationary– Mysthenic episodesMysthenic episodes

Clinical forms:Clinical forms:– OphthalmicOphthalmic– BulbarBulbar– SkeletalSkeletal– GeneralGeneral

Typical features:Typical features:

Asymmetric lesionAsymmetric lesion Dynamic symptoms (the signs increase in the evening)Dynamic symptoms (the signs increase in the evening) Ophthalmoplegia is a very common symptom. The Ophthalmoplegia is a very common symptom. The

other ones are:other ones are:- Weakness of mimic muscles – especially oral muscles.- Weakness of mimic muscles – especially oral muscles.- Weakness of chewing muscles.- Weakness of chewing muscles.- Weakness of pharyngeal, laryngeal muscles and - Weakness of pharyngeal, laryngeal muscles and

muscles of tonguemuscles of tongue- Tongue muscles function disorders- Tongue muscles function disorders- Breathing disturbances- Breathing disturbances- Extremities function disturbances (especially proximal - Extremities function disturbances (especially proximal

parts)parts)- Neck muscles weakness – hanging of the head- Neck muscles weakness – hanging of the head- Body muscles weakness that leads to duck – like gait- Body muscles weakness that leads to duck – like gait Sensory and pelvic disorders usually are not observed.Sensory and pelvic disorders usually are not observed.

Eyes movemens disordersEyes movemens disorders

Left side ptosisLeft side ptosis

Myasthenia gravis . Bilateral Myasthenia gravis . Bilateral ptosis, hypomimiaptosis, hypomimia

Myasthenia gravis. Myasthenia gravis. Weakness of neck muslesWeakness of neck musles

Tests for disease revealingTests for disease revealing The patient is asked to look upwards or inside The patient is asked to look upwards or inside

during 30 seconds in order to cause ptosisduring 30 seconds in order to cause ptosis HHe is asked to read text aloud in order to cause e is asked to read text aloud in order to cause

dysarthriadysarthria The patient is asked to make 100 chewing The patient is asked to make 100 chewing

movements in order to reveal the weakness of movements in order to reveal the weakness of these musclesthese muscles

Proserine test. Proserine test. Proserine is introduced in dose Proserine is introduced in dose 1.5 – 3 ml s/c, sometimes Atropinum is used in 1.5 – 3 ml s/c, sometimes Atropinum is used in order to prevent side effects. In 20–40 min all the order to prevent side effects. In 20–40 min all the signs of myasthenia disappear. In 2–3 hours all signs of myasthenia disappear. In 2–3 hours all the symptoms appear again the symptoms appear again

DiagnosisDiagnosis

EMG – EMG – myasthenic reaction. Test myasthenic reaction. Test is positive in 85% of patients with is positive in 85% of patients with skeletal form.skeletal form.

Muscle biopsy – Muscle biopsy – muscle atrophy muscle atrophy and signs of degeneration.and signs of degeneration.

CT CT reveals timoma signs. In 90% reveals timoma signs. In 90% of all patients antibodies to ACHR of all patients antibodies to ACHR are found are found

Thymoma Thymoma ((CT-scanCT-scan))

Thymoma Thymoma ((X-rayX-ray))

Differential diagnosisDifferential diagnosis

BotulismBotulism NeurastheniaNeurasthenia LASLAS PolineuropathyPolineuropathy Muscles dystrophyMuscles dystrophy Inflammatory myopathyInflammatory myopathy MSMS Stroke in v/b regionStroke in v/b region Brain stem tumorBrain stem tumor

BothulismBothulism

Myastenic syndrome Myastenic syndrome Of Lambert-IthonOf Lambert-Ithon

TreatmentTreatment

Anticholinestherase medicinesAnticholinestherase medicines::- - Caliminum – 30 mg 3 times per day.Caliminum – 30 mg 3 times per day.- - Proserinum – 0.5 – 1.5 mg s/cProserinum – 0.5 – 1.5 mg s/c K drugs K drugs 3 – 4 g per day.3 – 4 g per day. Corticoids – Corticoids – we start from 15–20 mg we start from 15–20 mg aa day, than day, than

increase gradually on 5 mg every 3 increase gradually on 5 mg every 3 ddayay Anabolics –Anabolics – Retabolil 50 mg once every 3 days, 5 Retabolil 50 mg once every 3 days, 5

– 6 injections– 6 injections Immune suppressors –Immune suppressors – Asatioprinum in dose 50 Asatioprinum in dose 50

– 150 – 200 mg per day– 150 – 200 mg per day Plasmapheresis -Plasmapheresis - at acute and progressive form at acute and progressive form Radiation therapy of thymusRadiation therapy of thymus Methabolic drugsMethabolic drugs

MMyastheniyasthenicc crisis crisis::

– PlasmapheresisPlasmapheresis– Ig i/v (2 g per kg 2 – 5 days)Ig i/v (2 g per kg 2 – 5 days)– Corticoids (100 mg prednisonum)Corticoids (100 mg prednisonum)– Proserinum 1 – 2 ml i/v Proserinum 1 – 2 ml i/v – SLV, oxygenSLV, oxygen– Halloperidolum at excitation Halloperidolum at excitation

Cholinergic crisisCholinergic crisis

There fasciculations, seizures, There fasciculations, seizures, bradycardia, salivation, bradycardia, salivation, hyperhydrosis and abdominal hyperhydrosis and abdominal pain.pain.

Treatment – Atropinum 1 ml 0.1 Treatment – Atropinum 1 ml 0.1 % s/c or i/v.% s/c or i/v.

Diseases withDiseases with involvement of involvement of

pyramidal systempyramidal system:: Hereditary Spastic paraplegia of Hereditary Spastic paraplegia of

ShtrumpelShtrumpel Family spastic paralysis with Family spastic paralysis with

amyotrophy, oligophrenia, retina amyotrophy, oligophrenia, retina degeneration (described by degeneration (described by Kellin)Kellin)

Family spastic paralysis with Family spastic paralysis with ichthyosis and oligophreniaichthyosis and oligophrenia

Spastic paraplegia of Spastic paraplegia of ShtrumpelShtrumpel

This disease is the result of pyramidal tracts and This disease is the result of pyramidal tracts and cerebellar connections degeneration.cerebellar connections degeneration.

Transmission:Transmission: genetically recessive in most cases genetically recessive in most cases but in some families it show dominant inheritancebut in some families it show dominant inheritance

Clinical features:Clinical features: The first signs are observed at the age of 10–15The first signs are observed at the age of 10–15 Lower spastic paraplegia with increased muscle Lower spastic paraplegia with increased muscle

tonus, high stretch reflexes, pathological reflexestonus, high stretch reflexes, pathological reflexes Lesion of lower extremities is symmetricalLesion of lower extremities is symmetrical Sometimes motor disorders can be developed in Sometimes motor disorders can be developed in

upper extremities. upper extremities. In some cases pseudobulbar symptoms are joinedIn some cases pseudobulbar symptoms are joined The typical signs of the disease:The typical signs of the disease: The dominance of spastic tonus over motor disordersThe dominance of spastic tonus over motor disorders Well preserved abdominal reflexesWell preserved abdominal reflexes The absence of pelvic disordersThe absence of pelvic disorders

Diseases withDiseases with involvement of involvement of extrapyramidal systemextrapyramidal system::

– Parkinson diseaseParkinson disease– Hepato – cerebral degenerationHepato – cerebral degeneration– DystoniaDystonia– Huntington diseaseHuntington disease– Double athetosis Double athetosis – Myoclonus – epilepsyMyoclonus – epilepsy– Tourette syndromeTourette syndrome

ParkinsonismParkinsonism

is a chronic progressive is a chronic progressive neurodegenerative syndrome that is neurodegenerative syndrome that is characterized by motor disorders as a characterized by motor disorders as a result of extrapyramidal system result of extrapyramidal system involvementinvolvement

Parkinson disease (PD)Parkinson disease (PD) – – is a is a chronic progressive degenerative chronic progressive degenerative disease of CNS that manifest as disease of CNS that manifest as voluntary movements disorders.voluntary movements disorders.

EtiologyEtiologyPrimary Parkinsonism:Primary Parkinsonism: Parkinson diseaseParkinson disease Younger parkinsonismYounger parkinsonismSecondary Parkinsonism:Secondary Parkinsonism: Cerebral vessels sclerosisCerebral vessels sclerosis Long lasting usage of neuroleptics, reserpinum Long lasting usage of neuroleptics, reserpinum

medicinesmedicines ToxinsToxins Viral infectionsViral infections Metabolic encephalopathyMetabolic encephalopathy Severe cranial traumaSevere cranial trauma Tumors, hydrocephalusTumors, hydrocephalusParkinsonism as syndrome of other hereditary Parkinsonism as syndrome of other hereditary

diseasesdiseases

Clinical featuresClinical features

HypokinesiaHypokinesia RigidityRigidity Resting tremblingResting trembling Loss of postural reflexesLoss of postural reflexes

Parkinson’s diseaseParkinson’s disease

In 1817 – James In 1817 – James Parkinson described the Parkinson described the major manifestation of major manifestation of this syndromethis syndrome

In 1874 – this disease In 1874 – this disease was called after James was called after James Parkinson – Parkinson’s Parkinson – Parkinson’s diseasedisease

In 1920 – Tretiakov In 1920 – Tretiakov noticed that the greater noticed that the greater cell loss in substantia cell loss in substantia nigra, the lower nigra, the lower concentration of concentration of dopamine is in striatum dopamine is in striatum and more severe the and more severe the degree of clinical degree of clinical Parkinsonism.Parkinsonism.

3333

Normal Parkinson disease

SNpc SNpc

SNpl SNplrn rn

A8 A8

cp cp

PGS CGS

Death of the neurons of Death of the neurons of black black substance in patient substance in patient with Parkinson disease with Parkinson disease

Hirsch E, et al. Nature 1988;334:345-8.

Rest tremorRest tremor

at a frequency of 4 to 5 Hz is present in the at a frequency of 4 to 5 Hz is present in the extremities, almost always distallyextremities, almost always distally

the classic "pill-rolling" tremor involves the the classic "pill-rolling" tremor involves the thumb and forearms thumb and forearms

disappears with action but reemerges as the disappears with action but reemerges as the limbs maintain a posturelimbs maintain a posture

common in the lips, chin, and tonguecommon in the lips, chin, and tongue tremor of the hands increases with walking tremor of the hands increases with walking

and may be early sign when others are not and may be early sign when others are not yet presentyet present

stress worsens the tremorstress worsens the tremor

RigidityRigidity

increase of muscle tone that is elicited when the increase of muscle tone that is elicited when the examiner moves the patient's limbs, neck or examiner moves the patient's limbs, neck or trunk. trunk.

this increased resistance to passive movement is this increased resistance to passive movement is equal in all directions and usually is mat by a equal in all directions and usually is mat by a ratchety "give" during the movement.ratchety "give" during the movement.

so-called cogwheeling is caused by the underlying so-called cogwheeling is caused by the underlying tremor even in the absence of visible tremor. tremor even in the absence of visible tremor. Cogwheeling also occurs in patients with essential Cogwheeling also occurs in patients with essential tremor.tremor.

rigidity of the passive limb increases while rigidity of the passive limb increases while another limb is engaged in voluntary active another limb is engaged in voluntary active movementmovement

Clinical Feature (2)Clinical Feature (2)

Resting TremorResting TremorParkinsonian PostureParkinsonian PostureRigidity-Cogwheel RigidityRigidity-Cogwheel Rigidity

Parkinson’s Disease Parkinson’s Disease

Paralysis AgitansParalysis Agitans

Parkinson's disease. Facial Parkinson's disease. Facial appearanceappearance

Parkinson's disease. Parkinson's disease. MMicicrographia rographia

Parkinson's disease. Parkinson's disease. Stooped posture.Stooped posture.

Test of knee flexionTest of knee flexion

Flexed postureFlexed posture

The commonly begins in the arms and spreads to The commonly begins in the arms and spreads to involve the entire body. involve the entire body.

The head is bowedThe head is bowed the trunk is bent forwardthe trunk is bent forward the back is kyphoticthe back is kyphotic the arms are held in front of the bodythe arms are held in front of the body the elbows, hips, and knees are flexedthe elbows, hips, and knees are flexed Deformities of the hands include ulnar deviation of Deformities of the hands include ulnar deviation of

the hands, flexion of the metacarpal-phalangeal the hands, flexion of the metacarpal-phalangeal joints, and extension of the interphalangeal joints joints, and extension of the interphalangeal joints (striatal hand)(striatal hand)

Inversion of the feet is apparent, and the big toes Inversion of the feet is apparent, and the big toes may be dorsiflexed (striatal toe)may be dorsiflexed (striatal toe)

Lateral tilting of the trunk is common.Lateral tilting of the trunk is common.

AkinesiaAkinesia Bradykinesia Bradykinesia (slowness of movement, difficulty initiating movement, (slowness of movement, difficulty initiating movement,

and loss of automatic movement) and and loss of automatic movement) and hypokinesia hypokinesia (reduction in (reduction in amplitude of movement, particularly with repetitive movements, so-amplitude of movement, particularly with repetitive movements, so-called decrementing)called decrementing)

The face loses spontaneous expression (masked facie: The face loses spontaneous expression (masked facie: hypomimia) hypomimia) with decreased frequency of blinking. with decreased frequency of blinking.

Poverty of spontaneous movement is characterized by loss of Poverty of spontaneous movement is characterized by loss of gesturing and by the patient's tendency to sit motionless. gesturing and by the patient's tendency to sit motionless.

Speech becomes soft Speech becomes soft (hypophonia, (hypophonia, and the voice has a monotonous and the voice has a monotonous tone with a lack of inflection tone with a lack of inflection (aprosody). (aprosody).

Some patients do not enunciate clearly Some patients do not enunciate clearly (dysarthria) (dysarthria) and do not and do not separate syllables clearly, thus running the words together separate syllables clearly, thus running the words together (tachyphemia). (tachyphemia).

small and slow handwriting small and slow handwriting (micrographia) (micrographia) and in difficulty shaving, and in difficulty shaving, brushing teeth, combing hair, buttoning, or applying makeup. brushing teeth, combing hair, buttoning, or applying makeup.

Playing mi instruments is impaired. Playing mi instruments is impaired. Walking is slow, with a shortened stride length and a tendency to Walking is slow, with a shortened stride length and a tendency to

shuffle; swing decreases and eventually is lost. shuffle; swing decreases and eventually is lost. Difficulty rising from a deep chair, getting out of automobiles and Difficulty rising from a deep chair, getting out of automobiles and

turning in bed are symptoms of truncal bradykinesia. turning in bed are symptoms of truncal bradykinesia. Drooling saliva results from failure to swallow spontaneously, a feature Drooling saliva results from failure to swallow spontaneously, a feature

of bradykinesia, and is not caused by excessive production of saliva. of bradykinesia, and is not caused by excessive production of saliva.

The main clinical formsThe main clinical forms

TremblingTrembling RigidityRigidity MixedMixed

Severity stages:Severity stages: I – loss of activity, but that doesn’t I – loss of activity, but that doesn’t

influence on professional activity and influence on professional activity and working abilityworking ability

II – moderate loss of professional activityII – moderate loss of professional activity III – the patients need someone to look III – the patients need someone to look

after himafter him

Drug TherapyDrug Therapy

Carbidopa Carbidopa is listed as the peripheral is listed as the peripheral dopa decarboxylase inhibitor, but in dopa decarboxylase inhibitor, but in many countries many countries benserazide benserazide is also is also availableavailable

Amantadine, selegiline, Amantadine, selegiline, and the and the anticholinergics are reviewed in anticholinergics are reviewed in following sectionsfollowing sections

Antidepressants are needed for Antidepressants are needed for treating depressiontreating depression

TriatmentTriatment

Basic therapyBasic therapy: : NootropsNootrops CinnariziniCinnarizini CavintoniCavintoni Adequate dose of antiparkinsonic drugsAdequate dose of antiparkinsonic drugsSurgery therapySurgery therapy:: Stereotaxis operationsStereotaxis operations Deep electrostimulation of brain structuresDeep electrostimulation of brain structures Method for case of no effective of drug Method for case of no effective of drug

therapytherapy

5151

Early-Stage PDКонтроль Late-Stage PD

PET*

КControl Late-Stage PDEarly-Stage PD Mid-Stage PD

OPEКТ‡

Early stage of PD Later stage of PD

Later stage of PD

Early stage of PDMiddle stage of PD

© 2004 American Medical Association. All rights reserved.

Hepatocerebral dystrophy Hepatocerebral dystrophy (HCD)( Wilson – Konovalov (HCD)( Wilson – Konovalov disease)disease) This disease is connected with This disease is connected with

disorders of ceruloplasminum disorders of ceruloplasminum metabolism. Ceruloplasminum is a metabolism. Ceruloplasminum is a blood protein responsible for Cu blood protein responsible for Cu transport. It is produced in liver. transport. It is produced in liver. Pathologically there is accommodation Pathologically there is accommodation of Cu in subcortical ganglions of Cu in subcortical ganglions (especially n. Lenticularis), brain (especially n. Lenticularis), brain cortex, cerebellum, liver, spleen, iris. cortex, cerebellum, liver, spleen, iris.

Transmission:Transmission: genetically autosomal genetically autosomal – recessive. And it is observed in male – recessive. And it is observed in male and female with the same frequency.and female with the same frequency.

Clinical signsClinical signsThe The first signs of the diseasefirst signs of the disease are observed in early are observed in early

childhood. childhood. neck stiffnessneck stiffness different hyperkinesis and psychiatric changesdifferent hyperkinesis and psychiatric changes Sometimes seizures can be observedSometimes seizures can be observed liver enlargement. liver enlargement. Kaizer – Fleishner ring in the iris.Kaizer – Fleishner ring in the iris.Konovalov classification types of the disease:Konovalov classification types of the disease: Rigid – arythmokineticRigid – arythmokinetic Trembling – rigidTrembling – rigid TremblingTrembling Extrapyramidal – corticalExtrapyramidal – cortical Sometimes the disease manifests only as liver Sometimes the disease manifests only as liver

insufficiency and neurological signs are joined later.insufficiency and neurological signs are joined later.

DiagnosisDiagnosis

Family historyFamily history The typical signs of the disease – Kaizer The typical signs of the disease – Kaizer

– Fleishner ring, lesion of liver, low – Fleishner ring, lesion of liver, low quantity of ceruloplasminum in the quantity of ceruloplasminum in the blood, increased quantity of Cu in urine.blood, increased quantity of Cu in urine.

Differential diagnosisDifferential diagnosis Huntington diseaseHuntington disease MSMS Chronic stage of epidemic encephalitisChronic stage of epidemic encephalitis

Torsion dystoniaTorsion dystonia

The pathology of the disease includes The pathology of the disease includes degenerative changes of subcortical degenerative changes of subcortical ganglions, subthalamic nuclei and n. ganglions, subthalamic nuclei and n. Dentatus of cerebellum as a result of Dentatus of cerebellum as a result of neuromediators production and neuromediators production and metabolism disturbances. metabolism disturbances.

Hyperkinetic formHyperkinetic form of the disease has of the disease has autosomal – dominant type of autosomal – dominant type of inheritance. inheritance. Rigid formRigid form of the disease is of the disease is characterized by autosomal – recessive characterized by autosomal – recessive type of inheritance.type of inheritance.

Clinical featuresClinical features The disease begins in early childhood The disease begins in early childhood permanent progressionpermanent progression hyperkinesis that increases with every movement. hyperkinesis that increases with every movement. hyperkinesis may have a look of tonic body and hyperkinesis may have a look of tonic body and

extremities muscle strainingextremities muscle straining Spastic torticollis is one of the earliest symptoms of the Spastic torticollis is one of the earliest symptoms of the

disease. disease. There are no mental disorders in typical cases. There are no mental disorders in typical cases. There are generalized form of the disease and local There are generalized form of the disease and local

ones, such as spastic torticollis and chirospasm.ones, such as spastic torticollis and chirospasm.DiagnosisDiagnosis

Family history and the evaluation of pathological Family history and the evaluation of pathological process dynamics are necessary for the diagnosis process dynamics are necessary for the diagnosis putting.putting.

Differential diagnosisDifferential diagnosis Atypical form of Economo encephalitisAtypical form of Economo encephalitis

Huntington diseaseHuntington disease

It is a progressive hereditary It is a progressive hereditary disorder that usually appears in disorder that usually appears in adult life. It is the result of adult life. It is the result of systemic degeneration of systemic degeneration of extrapyramidal structures and extrapyramidal structures and brain cortex. brain cortex.

It has autosomal – dominant type It has autosomal – dominant type of inheritance.of inheritance.

Clinical featuresClinical features

AAppears in adult life and it is very rare in ppears in adult life and it is very rare in childrenchildren

Male and female can suffer from this disease. Male and female can suffer from this disease. Choreic movementsChoreic movements Extrapyramidal rigidityExtrapyramidal rigidity Slowly progressive dementiaSlowly progressive dementia Rare forms are:Rare forms are: Akinetic – rigid syndromeAkinetic – rigid syndrome Extrapyramidal immobility in childrenExtrapyramidal immobility in children Epileptic attacksEpileptic attacks MyocloniaMyoclonia

DiagnosisDiagnosis

Clinical and genetic analysisClinical and genetic analysis CT and MRI of brain (atrophic changes CT and MRI of brain (atrophic changes

of brain hemispheres)of brain hemispheres) EEGEEG DNA – analysisDNA – analysis

Differential diagnosisDifferential diagnosis ChoreaChorea Hepato – cerebral degenerationHepato – cerebral degeneration

Hereditary ataxiaHereditary ataxia

– Spinal ataxia of Fridreich Spinal ataxia of Fridreich – Hereditary cerebellar Hereditary cerebellar

ataxia of Pier – Maryataxia of Pier – Mary– Olivo – ponto – cerebellar Olivo – ponto – cerebellar

degenerationdegeneration

Spinal Fridreich ataxiaSpinal Fridreich ataxiaThe disease is characterized by spinal cord degeneration and The disease is characterized by spinal cord degeneration and

degenerative – dystrophic changes in posterior and lateral degenerative – dystrophic changes in posterior and lateral columns.columns.

TTransmission:ransmission: by autosomal – recessive type of inheritance.by autosomal – recessive type of inheritance.Clinical features Clinical features :: The disease begins at the age of 10 – 12 The disease begins at the age of 10 – 12 slowly progressesslowly progresses sensitive – cerebellar ataxia, nystagmus sensitive – cerebellar ataxia, nystagmus muscle hypotonia and areflexiamuscle hypotonia and areflexia gait disordersgait disorders At the beginning of the disease there is deep sensation At the beginning of the disease there is deep sensation

disorders according to the conductive type on lower disorders according to the conductive type on lower extremities.extremities.

In the course of the disease coordination disorders, scan In the course of the disease coordination disorders, scan speech, body and upper extremities ataxia appear. speech, body and upper extremities ataxia appear.

some bone abnormalities some bone abnormalities cardiomyopathcardiomyopathyy mental disorders mental disorders symptoms of lesion of pyramidal tractssymptoms of lesion of pyramidal tracts

Hereditary cerebellar ataxia of Pier–Hereditary cerebellar ataxia of Pier–MaryMary

The main signs of the disease are:The main signs of the disease are: The beginning at the age of 30 – 50The beginning at the age of 30 – 50 Cereballar ataxiaCereballar ataxia DysarthriaDysarthria HyperreflexiaHyperreflexia Spastic muscle hypertoniaSpastic muscle hypertoniaTTransmission: byransmission: by autosomal – dominant autosomal – dominant type type..Clinical featureClinical feature:: begins gradually with gait disordersbegins gradually with gait disorders disorders of coordination, nystagmus, dysarthriadisorders of coordination, nystagmus, dysarthria high reflexes, increased muscle tonus spastic type high reflexes, increased muscle tonus spastic type

(mainly in lower extremities), pathologic reflexes(mainly in lower extremities), pathologic reflexes eeye movements disorders ye movements disorders mental, memory and emotional disordersmental, memory and emotional disorders tthe course of the disease is progressivehe course of the disease is progressive

Olivo-ponto-cerebellar Olivo-ponto-cerebellar degenerationdegeneration

It is the group of the diseases that It is the group of the diseases that are connected by system lesion of are connected by system lesion of cerebellar cortex, pons and lower cerebellar cortex, pons and lower olives. Sometimes the neurons of olives. Sometimes the neurons of anterior horns of the spinal cord anterior horns of the spinal cord and basal ganglia are involved.and basal ganglia are involved.

The inheritanceThe inheritance of the disease is of the disease is autosomal – dominant.autosomal – dominant.

Clinical featuresClinical features

BBegins at the age of 15 – 20, egins at the age of 15 – 20, sometimes 30 yearssometimes 30 years

Cerebellar symptoms dominateCerebellar symptoms dominate also extrapyramidal and pyramidal also extrapyramidal and pyramidal

symptomssymptoms peripheral polineuropathyperipheral polineuropathy Sometimes retina is involved in Sometimes retina is involved in

pathological processpathological process Mental disorders are often observedMental disorders are often observed

Diseases with involvement of Diseases with involvement of neuro – muscular junction:neuro – muscular junction:

Progressive muscular Progressive muscular dystrophydystrophy

– Dushen pseudo – hypertrophic Dushen pseudo – hypertrophic muscle dystrophymuscle dystrophy

– Late Bekker pseudo – hypertrophic Late Bekker pseudo – hypertrophic muscle dystrophymuscle dystrophy

– Shoulder – scapula – facial form of Shoulder – scapula – facial form of Landuzi – DegerinaLanduzi – Degerina

– Erba dystrophyErba dystrophy

Amyotrophy as a result of Amyotrophy as a result of peripheral neuron lesionperipheral neuron lesion

Spinal amyotrophy of Werding – Spinal amyotrophy of Werding – HoffmanHoffman

Proximal amyotrophy of Proximal amyotrophy of Kukelberg – WelanderKukelberg – Welander

Sharkot – Marie – Tooth diseaseSharkot – Marie – Tooth disease

Family – hereditary Family – hereditary myotonia:myotonia:

– Myotonia TomsenaMyotonia Tomsena– Atonic myotoniaAtonic myotonia

Hereditary Hereditary diseases with diseases with paroxysmal states:paroxysmal states:

– Paroxysmal family myoplegiaParoxysmal family myoplegia– Episodic hereditary adynamiaEpisodic hereditary adynamia