Autosomal dominant spastic paraplegia type 10 (Q100880): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Síndrome de paraplegia espástica autossômica dominante que é categorizada como forma pura ou fenótipo complexo. A forma pura envolve espasticidade dos membros inferiores, hiperreflexia e respostas extensoras plantares, apresentando-se na infância ou adolescência. O fenótipo complexo está associado a achados adicionais, como neuropatia periférica com amiotrofia de membros superiores, incapacidade intelectual moderada e parkinsonismo. | |||
| description / en | description / en | ||
Autosomal dominant spastic paraplegia syndrome that is categorized as either pure form or complex phenotype. The pure form involves lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex phenotype is associated with additional findings such as peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. | |||
Revision as of 17:39, 16 August 2026
Autosomal dominant spastic paraplegia syndrome that is categorized as either pure form or complex phenotype. The pure form involves lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex phenotype is associated with additional findings such as peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_217113223 |
||
| English | Autosomal dominant spastic paraplegia type 10 |
Autosomal dominant spastic paraplegia syndrome that is categorized as either pure form or complex phenotype. The pure form involves lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex phenotype is associated with additional findings such as peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. |
