Orphanet: Spinal muscular atrophy Dandy Walker malformation cataracts syndrome

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Disease definition

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.

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Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA:73245

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

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