Autosomal dominant spastic paraplegia type 12 (Q100883): Difference between revisions
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Paraplegia espástica autossômica dominante causada pela expansão de repetição CAG não codificante no gene PPP2R2B, que codifica a proteína fosfatase 2. É caracterizada pelo início da infância até a idade adulta de espasticidade lentamente progressiva dos membros inferiores e hiperreflexia das extremidades inferiores, reflexos extensores plantares, comprometimento sensorial distal , disfunção urinária variável e pé cavo. | |||
| description / en | description / en | ||
Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. | |||
Revision as of 17:39, 16 August 2026
Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_598149528 |
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| English | Autosomal dominant spastic paraplegia type 12 |
Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. |
