Muscular Dystrophy
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- Inherited group of degenerative muscular diseases
- Progressive muscle weakness and wasting
- Usually due to a genetic fault -> muscular protein deficiency
- Duchenne MD in humans due to dystrophin deficiency also present in some animals
- Dystrophin gene mutations reported in the Golden Retriever, Rottweiler, German shorthaired pointer and Irish terrier etc.
- Inadequate regeneration, compensatory hypertrophy
More about muscular dystrophy
- Reported in a Rat terrier
- V high creatine kinase levels, high ALT
- Hypertrophic and atrophic skeletal muscle fibres
- Necrosis, degeneration, phagocytosis, etc seen in the muscle
- Rare myofibre splitting into 2 or more daughter fibres (see on cross section as round fibre, split into two D-shaped halves)
- No dystrophin detected
- Mutation in dystrophin gene
- Cytoplasmic side of the myofibre plasma membrane – playing a role in membrane stability and integrity
- Due to increased membrane permeability Ca2+enters and CK leaks out.
- X-linked MD in Golden retrievers, also suspected in Irish terriers, Belgian Groenendaels, Samoyeds, minature schnauzers and Brittany spaniels
- In cats – hypertrophic muscular dystrophy – no dystrophin detected either
- Diaphram, tongue and oesophagus usually particularly hypertrophied
- No major rearrangements/deletions of promotor region of the dystrophin gene in cases of dilated cardiomyopathy in Dobermans and Irish terrier myopathy