What is distal spinal muscular atrophy?

Updated: Feb 20, 2018
  • Author: Sridharan Ramaratnam, MD, MBBS; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Distal spinal muscular atrophy

  • This disorder is transmitted by autosomal-dominant and -recessive genes in about half of cases. The remaining cases are sporadic.

  • The most common presentation is at or soon after birth. Distal wasting, weakness, and hypotonia start in the legs and later involve the arms. Pes cavus is frequent.

  • The disorder is usually mild and evolves slowly or even stabilizes, except in the adult-onset recessive type, which is severe and rapidly progressive.


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