Autosomal spastic paraplegia type 30

Engelsk navn: Autosomal spastic paraplegia type 30
Engelske synonym: SPG30


A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

Fra Orphanet

ORPHA: 101010
Klassifiseringsnivå: Disorder
ICD-10: G11.4

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