Spastic paraplegia-optic atrophy-neuropathy syndrome

Orpha code: 320406OMIM code: 609541

Definition

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
Classification

Disease

Synonyms
SPOAN
SPOAN
ORPHA code
320406
OMIM code
609541
ICD10 code
G11.4
ICD11 code
-

No additional description.

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