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dystr ophi es
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Pathogenesis
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 fibresbulky
muscle.
Later on, longitudinal splitting of muscle fibres and
fibrosis.
Heart : May show cardiomyopathy.
Investigations for muscular
-:dystrophies
1. Myotonia congenita.
2. Myotonia paradoxica.
3. Paramyotonia congenita.
4. Acquired myotonia.
5. Dystrophia myotonica.
6. Chondrodystrophic myotonia.
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-:Pathology
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-:Prognosis
1. Quinine HCL.
2. Procainamide HCL (local anaesthetic).
3. Ca gluconate.
4. Epanutin.
5. K exchange resins.
6. Corticosteriods.
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