Autosomal spastic paraplegia type 30

Orpha code: 101010OMIM code: 610357

Definition

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.

Disease data
Classification

Disease

Synonyms
SPG30
SPG30
ORPHA code
101010
OMIM code
610357
ICD10 code
G11.4
ICD11 code
-

No additional description.

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