Autosomal dominant spastic paraplegia type 12 (Q100883): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/598149528 / rank | |||
Normal rank | |||
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 |
||
| 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. |
