2 Werdnig – Hoffmann disease

Location of neurons affected by spinal muscular atrophy in the spinal cord

Werdnig – Hoffmann disease = SMA type I (Infantile)

  • Autosomal Recessive.
  • Usual age of onset : 0-6months
  • Marked hypotonia, Sluggish movement and fasciculation of tongue (Floppy Neonate).
  • Atrophy of spinal anterior horn cells.
  • Sparing : Extraoccular muscles and sphincters.
  • Death by 2-4yr age

Dubowitz disease = SMA type II (Intermediate)

Kugelberg – Welander disease = SMA type III (juvenile)

Adult onset - Type IV

Img source: http://en.wikipedia.org/wiki/File:Polio_spinal_diagram.PNG


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