Autosomal dominant spastic paraplegia type 6 (Q100874): Difference between revisions
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Paraplegia espástica autossômica dominante que geralmente se apresenta no final da adolescência ou início da idade adulta como um fenótipo puro de espasticidade de membros inferiores com hiperreflexia e respostas extensoras plantares, bem como distúrbios leves da bexiga e pés cavos. Raramente, pode apresentar-se como um fenótipo complexo com manifestações adicionais, incluindo epilepsia, neuropatia periférica variável e/ou comprometimento da memória. | |||
| description / en | description / en | ||
Autosomal dominant spastic paraplegia that usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. | |||
Revision as of 17:39, 16 August 2026
Autosomal dominant spastic paraplegia that usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_434114972 |
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| English | Autosomal dominant spastic paraplegia type 6 |
Autosomal dominant spastic paraplegia that usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. |
