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Pr og r essi ve muscul ar

dystr ophi es

By

Prof Dr / Ahmed Gamal Azab


-: Definition

– It is a group of genetically determined


primary degenerative muscular disorders
characterized by muscular weakness and
wasting (myopathy).

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Pathogenesis

- A defect in muscle fibre plasma


membrane > uncontrolled entery of
calcium > activation of calcium
dependent protease > muscle fibre
necrosis.
-The missing gene product is a protein
called (Dystrophin).
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-:Classification

A) X- linked recessive:-
1- Severe (Duchenne).
2- Benign (Becker).
3- Benign with acanthocytes.
4- Benign with early contractures (Emery-Dreifuss).

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B- Autosomal recessive:-
 Limb girdle (usually scapulo-humeral, rarely
pelvi-femoral).
 Childhood type, resembling Duchenne.
 Congenital muscular dystrophy.
C- Autosomal dominant:-
 Facioscapulohumeral.
 Scapuloperoneal.
 Distal.
 Ocular.
 Oculopharyngeal.
-:Pathology
 The microscopic changes are the same in all types:-
 Swelling of some muscle fibres.
 Multiplication of sarcolemmal nuclei.
 Striations become less marked.
 Increased C.T and fat deposition () the fibresbulky
muscle.
 Later on, longitudinal splitting of muscle fibres and
fibrosis.
 Heart : May show cardiomyopathy.
Investigations for muscular
-:dystrophies

1. EMG : diminished duration& amplitude


of MUAP.
2. Urine : ↓creatinine + app of creatine.
3. ↑serum enzymes :used to detect ♀
carriers & for preclinical diagnosis in♂.
4. Muscle biopsy.
-:Treatment of muscular dystrophies

1. Long term treatment of steroids (prednisone).


2. Gene therapy.
3. Myoblast transfer.
4. Calcuim antagonists.
5. Supportive therapy.
6. Fasciotomy for gastrocnemeus.
7. Assisted respiration when needed.
8. Psychological support.
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Myotonic Disorders

Definition :- A group of myopathies characterised


by slow relaxation of skeletal muscles after voluntary,
mechanical or electrical stimulation.
Pathogenesis :-
It is due to reduced chloride conductance and
permeability of the plasma membrane of muscle
fibre (as it persists after section of motor nerve or
curarization).
-:Types

1. Myotonia congenita.
2. Myotonia paradoxica.
3. Paramyotonia congenita.
4. Acquired myotonia.
5. Dystrophia myotonica.
6. Chondrodystrophic myotonia.

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-:Pathology

 Thesame as muscular dystrophy but without


atrophic changes in case of myotonia
congenita + typical sarcoplasmic masses.

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-:Prognosis

 Congenita :- non progressive  Muscular


hypertrophy persists & Myotonia improves.
 Dystrophia myotonica: slowly progressive,
bed ridden patient whithin 15-20 years, death
before normal age from respiratory infection
or heart failure.
-:Treatment

1. Quinine HCL.
2. Procainamide HCL (local anaesthetic).
3. Ca gluconate.
4. Epanutin.
5. K exchange resins.
6. Corticosteriods.
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