Autosomal dominant spastic paraplegia type 31 (Q100873): Difference between revisions
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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 |
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| 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. |
Statements
CID11:ID_508586160
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