Autosomal dominant spastisk paraplegi type 31


Engelsk navn: Autosomal dominant spastic paraplegia type 31
Engelske synonym: SPG31


Definisjon

A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

Fra Orphanet

ORPHA: 101011
Klassifiseringsnivå: Disorder
ICD-10: G11.4

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