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