Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Engelsk navn: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 73245
Klassifiseringsnivå: Disorder
ICD-10: G12.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
