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Hereditary Hereditary diseases of diseases of
nervous nervous systemsystem
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Common syndromesCommon syndromes Status dysrhaphycus (skin and Status dysrhaphycus (skin and
bone abnormalitiesbone abnormalities)) The diseaseThe diseasess begin in early begin in early
childhood childhood The diseases have The diseases have permanent permanent
progressionprogression ((slowly progressesslowly progresses)) There are mental disorders in There are mental disorders in
typical casestypical cases ( (psychiatric psychiatric changeschanges))
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Diseases withDiseases with involvement involvement of nervous – muscle of nervous – muscle synapse:synapse:
– MyastheniaMyasthenia– Myasthenic Myasthenic
syndromessyndromes
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Myasthenia gravis Myasthenia gravis (MG)(MG)
is caused by a defect of neuro-is caused by a defect of neuro-muscular transmission due to an muscular transmission due to an antibody-mediated attack on antibody-mediated attack on nicotinic acetylcholine receptors nicotinic acetylcholine receptors (AchR) at neuro-muscular (AchR) at neuro-muscular junctions. 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.
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Myasthenia gravis Myasthenia gravis (MG)(MG)
EtiologyEtiology is unknown. is unknown. How the How the autoimmune disorder starts is not known autoimmune disorder 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, DQB1) of some HLA haplotypes (B8, DR3, DQB1) in MG patients suggests that genetic in MG patients suggests that genetic predisposition may be importantpredisposition may be important
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PathogenesisPathogenesis Loss of receptors due to complement-Loss of receptors due to complement-
mediated lysis of the membrane and to mediated lysis of the membrane and to acceleration of normal degradative acceleration of normal degradative processes (internalization, endocytosis, processes (internalization, endocytosis, lysosomal hydrolysis) with inadequate lysosomal hydrolysis) with inadequate replacement by new synthesis replacement by new synthesis
Loss of AChR and the erosion and Loss of AChR and the erosion and simplification of the endplatessimplification of 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
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Clinical featuresClinical features According to the course of the According to the course of the
diseasedisease::– ProgressiveProgressive– StationaryStationary– Mysthenic episodesMysthenic episodes
Clinical forms:Clinical forms:– OphthalmicOphthalmic– BulbarBulbar– SkeletalSkeletal– GeneralGeneral
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Typical features:Typical features: Asymmetric lesion and dynamic symptoms Asymmetric lesion and dynamic symptoms
(the signs increase in the evening)(the signs increase in the evening) Ophthalmoplegia is a very common symptom. Ophthalmoplegia is a very common symptom. The other ones are:The other ones are:- - Weakness of mimic muscles – especially oral musclesWeakness 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 tongue, tongue function disordersmuscles of tongue, tongue 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 Sensory and pelvic disorders usually are not
observed.observed.
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Provocation tProvocation tests for disease ests for disease revealingrevealing
The patient is asked to look upwards or The patient is asked to look upwards or inside during 30 seconds in order to inside during 30 seconds in order to cause ptosiscause ptosis
HHe is asked to read text aloud in order to e is asked to read text aloud in order to cause dysarthriacause dysarthria
The patient is asked to make 100 The patient is asked to make 100 chewing movements in order to reveal chewing movements in order to reveal the weakness of these musclesthe weakness of these muscles
Proserine test. Proserine test. Proserine is introduced Proserine is introduced in dose 1.5 – in dose 1.5 – 22 ml s/c. In 20–40 min all ml s/c. In 20–40 min all the signs of myasthenia disappear. In 2–the signs of myasthenia disappear. In 2–3 hours all the symptoms appear again 3 hours all the symptoms appear again
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DiagnosisDiagnosis EMG – EMG – myasthenic reaction. myasthenic reaction.
Test is positive in 85% of Test is positive in 85% of patients with skeletal form.patients with skeletal form.
Muscle biopsy – Muscle biopsy – muscle muscle atrophy and signs of atrophy and signs of degeneration.degeneration.
CT CT reveals timoma signs. In reveals timoma signs. In 90% of all patients antibodies to 90% of all patients antibodies to ACHR are foundACHR are found
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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
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TreatmentTreatment Anticholinestherase medicinesAnticholinestherase medicines::- - Caliminum – 30 mg 3 times per dayCaliminum – 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 day3 – 4 g per day Corticoids – Corticoids – we start from 15–20 mg we start from 15–20 mg aa day, day,
than increase gradually on 5 mg every 3 than increase gradually on 5 mg every 3 ddayay Anabolics –Anabolics – Retabolil 50 mg once every 3 Retabolil 50 mg once every 3
days, 5 – 6 injectionsdays, 5 – 6 injections Immune suppressors –Immune suppressors – Asatioprinum in Asatioprinum in
dose 50 – 150 – 200 mg per daydose 50 – 150 – 200 mg per day Plasmapheresis -Plasmapheresis - at acute and progressive at acute and progressive
formform Radiation therapy of thymusRadiation therapy of thymus Methabolic drugsMethabolic drugs
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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 (100Corticoids (10000 mg mg
prednisonum)prednisonum)– Proserinum 1 – 2 ml i/v Proserinum 1 – 2 ml i/v – SLV, oxygenSLV, oxygen– Halloperidolum at excitationHalloperidolum at excitation
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Cholinergic crisisCholinergic crisis
There fasciculations, There fasciculations, seizures, bradycardia, seizures, bradycardia, salivation, hyperhydrosis salivation, hyperhydrosis and abdominal pain.and abdominal pain.
Treatment – Atropinum 1 Treatment – Atropinum 1 ml 0.1 % s/c or i/v.ml 0.1 % s/c or i/v.
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Diseases withDiseases with involvement of involvement of
pyramidal systempyramidal system:: Hereditary Spastic paraplegia Hereditary Spastic paraplegia
of Shtrumpelof Shtrumpel Family spastic paralysis with Family spastic paralysis with
amyotrophy, oligophrenia, amyotrophy, oligophrenia, retina degeneration (described retina degeneration (described by Kellin)by Kellin)
Family spastic paralysis with Family spastic paralysis with ichthyosis and oligophreniaichthyosis and oligophrenia
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Spastic paraplegia of Spastic paraplegia of ShtrumpelShtrumpel
This disease is the result of This disease is the result of pyramidal tracts and pyramidal tracts and cerebellar connections cerebellar connections degeneration.degeneration.
Transmission:Transmission: genetically genetically recessive in most cases recessive in most cases but but in some families it show in some families it show dominant inheritancedominant inheritance
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Clinical featuresClinical 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 tonus, high stretch reflexes, pathological reflexesreflexes
Lesion of lower extremities is symmetricalLesion of lower extremities is symmetrical Sometimes motor disorders can be developed Sometimes motor disorders can be developed
in upper extremities. in upper extremities. In some cases pseudobulbar symptoms are In some cases pseudobulbar symptoms are
joinedjoined The typical signs of the disease:The typical signs of the disease: The dominance of spastic tonus over motor The dominance of spastic tonus over motor
disordersdisorders Well preserved abdominal reflexesWell preserved abdominal reflexes The absence of pelvic disordersThe absence of pelvic disorders
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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
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ParkinsonismParkinsonism is a chronic progressive is a chronic progressive
neurodegenerative syndrome that is neurodegenerative syndrome that is characterized by motor disorders as characterized by motor disorders as a result of extrapyramidal system a 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.
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EtiologyEtiologyPrimary Parkinsonism:Primary Parkinsonism: Parkinson diseaseParkinson disease Younger parkinsonismYounger parkinsonismSecondary Parkinsonism:Secondary Parkinsonism: Cerebral vessels sclerosisCerebral vessels sclerosis Long lasting usage of neuroleptics, Long lasting usage of neuroleptics,
reserpinum medicinesreserpinum medicines ToxinsToxins Viral infectionsViral infections Metabolic encephalopathyMetabolic encephalopathy Severe cranial traumaSevere cranial trauma Tumors, hydrocephalusTumors, hydrocephalusParkinsonism as syndrome of other Parkinsonism as syndrome of other
hereditary diseaseshereditary diseases
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Clinical featuresClinical features
HypokinesiaHypokinesia RigidityRigidity Resting tremblingResting trembling Loss of postural reflexesLoss of postural reflexes
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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 II – moderate loss of professional activityactivity
III – the patients need someone to III – the patients need someone to look after himlook after him
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Drug TherapyDrug Therapy Carbidopa Carbidopa is listed as the is listed as the
peripheral dopa decarboxylase peripheral dopa decarboxylase inhibitor, but in many countries inhibitor, but in many countries benserazide benserazide is also availableis also available
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
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TriatmentTriatmentBasic therapyBasic therapy: : NootropsNootrops CinnariziniCinnarizini CavintoniCavintoni Adequate dose of antiparkinsonic drugsAdequate dose of antiparkinsonic drugsSurgery therapySurgery therapy:: Stereotaxis operationsStereotaxis operations Deep electrostimulation of brain Deep electrostimulation of brain
structuresstructures Method for case of no effective of drug Method for case of no effective of drug
therapytherapy
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Hepatocerebral dystrophy Hepatocerebral dystrophy (HCD) (Wilson – Konovalov (HCD) (Wilson – Konovalov disease)disease)
This disease is connected with disorders of This disease is connected with disorders of ceruloplasminum metabolism. ceruloplasminum metabolism. Ceruloplasminum is a blood protein Ceruloplasminum is a blood protein responsible for Cu transport. It is produced in responsible for Cu transport. It is produced in liver. Pathologically there is accommodation of liver. Pathologically there is accommodation of Cu in subcortical ganglions (especially n. Cu in subcortical ganglions (especially n. Lenticularis), brain cortex, cerebellum, liver, Lenticularis), brain cortex, cerebellum, liver, spleen, iris. spleen, iris.
Transmission:Transmission: genetically autosomal – genetically autosomal – recessive. And it is observed in male and recessive. And it is observed in male and female with the same frequency.female with the same frequency.
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Clinical signsClinical signs The The first signs of the diseasefirst signs of the disease
are observed in early childhood are observed in early childhood neck stiffnessneck stiffness different hyperkinesis different hyperkinesis psychiatric changespsychiatric changes Sometimes seizures can be Sometimes seizures can be
observedobserved liver enlargement. liver enlargement. Kaizer – Fleishner ring in the irisKaizer – Fleishner ring in the iris
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Konovalov classification Konovalov classification types of the diseasetypes of the disease::
Rigid – arythmokineticRigid – arythmokinetic Trembling – rigidTrembling – rigid TremblingTrembling Extrapyramidal – corticalExtrapyramidal – cortical
Sometimes the disease manifests Sometimes the disease manifests only as liver insufficiency and only as liver insufficiency and neurological signs are joined later.neurological signs are joined later.
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DiagnosisDiagnosis Family historyFamily history The typical signs of the disease The typical signs of the disease
– Kaizer – Fleishner ring – Kaizer – Fleishner ring lesion of liver lesion of liver low quantity of low quantity of
ceruloplasminum in the bloodceruloplasminum in the blood increased quantity of Cu in increased quantity of Cu in
urineurine
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Differential diagnosisDifferential diagnosis
Huntington diseaseHuntington diseaseMSMSChronic stage of Chronic stage of epidemic encephalitisepidemic encephalitis
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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 inheritance. autosomal – dominant type of inheritance. Rigid formRigid form of the disease is characterized of the disease is characterized by autosomal – recessive type of by autosomal – recessive type of inheritance.inheritance.
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Clinical featuresClinical features The disease begins in early childhood The disease begins in early childhood permanent progressionpermanent progression hyperkinesis that increases with every hyperkinesis that increases with every
movement movement hyperkinesis may have a look of tonic body hyperkinesis may have a look of tonic body
and extremities muscle strainingand extremities muscle straining Spastic torticollis is one of the earliest Spastic torticollis is one of the earliest
symptoms of the disease. symptoms of the disease. There are no mental disorders in typical There are no mental disorders in typical
cases. cases. There are generalized form of the disease and There are generalized form of the disease and
local ones, such as spastic torticollis and local ones, such as spastic torticollis and chirospasm.chirospasm.
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DiagnosisDiagnosis
Family history and the evaluation Family history and the evaluation of pathological process dynamics of pathological process dynamics are necessary for the diagnosis are necessary for the diagnosis putting.putting.
Differential diagnosisDifferential diagnosis Atypical form of Economo Atypical form of Economo
encephalitisencephalitis
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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.
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Clinical featuresClinical features AAppears in adult life and it is very ppears in adult life and it is very
rare in childrenrare in children Male and female can suffer from Male and female can suffer from
this diseasethis disease Choreic movementsChoreic movements Extrapyramidal rigidityExtrapyramidal rigidity Slowly progressive dementiaSlowly progressive dementia
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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
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Hereditary ataxiaHereditary ataxia
– Spinal ataxia of Spinal ataxia of Fridreich Fridreich
– Hereditary cerebellar Hereditary cerebellar ataxia of Pier – Maryataxia of Pier – Mary
– Olivo – ponto – Olivo – ponto – cerebellar degenerationcerebellar degeneration
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Spinal Fridreich ataxiaSpinal Fridreich ataxiaThe disease is characterized The disease is characterized
by spinal cord degeneration by spinal cord degeneration and degenerative – and degenerative – dystrophic changes in dystrophic changes in posterior and lateral columns.posterior and lateral columns.
TTransmission:ransmission: by autosomal – by autosomal – recessive type of inheritance.recessive type of inheritance.
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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 At the beginning of the disease there is deep
sensation disorders according to the conductive sensation disorders according to the conductive type on lower extremities.type on lower extremities.
In the course of the disease coordination In the course of the disease coordination disorders, scan speech, body and upper disorders, scan speech, body and upper extremities ataxia appear. 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
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Hereditary cerebellar ataxia Hereditary cerebellar ataxia of Pier–Maryof Pier–Mary
The main signs of the disease are:The main signs of the disease are: The beginning at the age of 30 – The beginning at the age of 30 –
5050 Cereballar ataxiaCereballar ataxia DysarthriaDysarthria HyperreflexiaHyperreflexia and s and spastic pastic
muscle hypertoniamuscle hypertonia
TTransmission: byransmission: by autosomal – autosomal – dominantdominant type type..
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Clinical featureClinical feature::
begins gradually with gait disordersbegins gradually with gait disorders disorders of coordination, nystagmus, disorders of coordination, nystagmus,
dysarthriadysarthria high reflexes, increased muscle tonus high reflexes, increased muscle tonus
spastic type (mainly in lower spastic type (mainly in lower extremities), pathologic reflexesextremities), pathologic reflexes
eeye movements disorders ye movements disorders mental, memory and emotional mental, memory and emotional
disordersdisorders tthe course of the disease is progressivehe course of the disease is progressive
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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.
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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
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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
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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
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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
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