Autosomal dominant spastic paraplegia type 31 (Q100873): Difference between revisions
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Paraplegia espástica autossômica dominante caracterizada por um fenótipo puro de fraqueza proximal das extremidades inferiores com marcha espástica e reflexos rápidos, com idade bimodal de início na infância ou na idade adulta. Em alguns casos, pode apresentar-se como um fenótipo complexo com manifestações adicionais associadas, incluindo neuropatia periférica, paralisia bulbar com disartria e disfagia, amiotrofia distal e disfunção da sensação de vibração distal. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
