Sunday, 4 December 2011

Spinal muscular atrophy

- group of disorder characterised by progressive degeneration of the motor neurons of spinal cords and brainstem
- most forms, especially the eariler onset are inherited in an autosomal recessive manner
- 3 common types
  Type 1 severe infantile SMA or Werdnig Hoffman disease
  Type 2 intermediate type
  Type 3 mild juvenile SMA Kugelberg Walander disease
- CK is normal
- EMG: fibrillation secondary to denervation
- muscle biopsy: group atrophy

1 comment:

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