Autosomal dominant spastic paraplegia type 38 (Q100907): Difference between revisions
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Paraplegia espástica hereditária causada por variação na região cromossômica 4p16-p15. Caracterizada por espasticidade leve a grave dos membros inferiores, hiperreflexia, respostas extensoras plantares, pés cavos e consumpção e fraqueza significativas dos pequenos músculos da mão. Também associada à sensação vibratória comprometida, epilepsia do lobo temporal e disfunção cognitiva. | |||
| description / en | description / en | ||
A hereditary spastic paraplegia caused by variation in chromosome region 4p16-p15. Characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Also associated with impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction. | |||
Revision as of 17:41, 16 August 2026
A hereditary spastic paraplegia caused by variation in chromosome region 4p16-p15. Characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Also associated with impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1487713774 |
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| English | Autosomal dominant spastic paraplegia type 38 |
A hereditary spastic paraplegia caused by variation in chromosome region 4p16-p15. Characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Also associated with impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction. |
