- 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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