Autosomal dominant spastic paraplegia type 3

Orpha code: 100984OMIM code: 182600

Definicja

A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.

Disease data
Klasyfikacja

Disease

Synonimy
Strümpell disease
Choroba Strümpella
Kod ORPHA
100984
Kod OMIM
182600
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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