Autosomal dominant spastic paraplegia type 31 (Q100873): Difference between revisions

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Latest revision as of 17:39, 16 August 2026

Autosomal dominant spastic paraplegia 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. 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.

Language	Label	Description	Also known as
default for all languages	ID_508586160
English	Autosomal dominant spastic paraplegia type 31	Autosomal dominant spastic paraplegia 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. 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.