Autosomal dominant spastic paraplegia type 6

Orpha code: 100988OMIM code: 600363

Definition

A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

Disease data
Classification

Disease

Synonyms
SPG6
Autosomalna dominująca rodzinna paraplegia spastyczna typu 3
SPG6
ORPHA code
100988
OMIM code
600363
ICD10 code
G11.4
ICD11 code
-

No additional description.

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