Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

What is Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?

A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.

Inheritance type

Unknown

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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