Autosomal dominant spastic paraplegia type 10 (Q100880)
From determinar.ia.br - Determine suas informações
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. |
Statements
CID11:ID_217113223
0 references
dki-india-ID_217113223
0 references
Concluído
0 references
15 August 2026
0 references
