Spastic paraplegia-optic atrophy-neuropathy syndrome

Orpha code: 320406OMIM code: 609541

Definicja

A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.

Disease data
Klasyfikacja

Disease

Synonimy
SPOAN
SPOAN
Kod ORPHA
320406
Kod OMIM
609541
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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