Distal hereditary motor neuropathy type 5 (Q103454): Difference between revisions
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Pacientes com NMHD5 desenvolvem fraqueza e atrofia mais proeminente do membro superior distal. A idade média de início é na adolescência. A fraqueza subsequentemente se espalha para o membro inferior distal e permanece de forma muito lentamente progressiva. Os pacientes podem permanecer ambulantes em fases mais tardias da vida. Podem ser observadas características piramidais leves. Dois subtipos foram identificados: 5A causada por mutações em GARS ou BSCL2 e 5B causada por mutações em REEP1. | |||
| description / en | description / en | ||
Patients with DHMN5 develop weakness and wasting most prominently of the distal upper limb. Average age of onset is in the teenage years. Weakness subsequently spreads to the distal lower limb and remains very slowly progressive. Patients may remain ambulant into later life. Mild pyramidal features may be observed. Two subtypes have been identified; 5A caused by mutations in GARS or BSCL2, and 5B caused by mutations in REEP1. | |||
Revision as of 09:13, 17 August 2026
Patients with DHMN5 develop weakness and wasting most prominently of the distal upper limb. Average age of onset is in the teenage years. Weakness subsequently spreads to the distal lower limb and remains very slowly progressive. Patients may remain ambulant into later life. Mild pyramidal features may be observed. Two subtypes have been identified; 5A caused by mutations in GARS or BSCL2, and 5B caused by mutations in REEP1.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_731763322 |
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| English | Distal hereditary motor neuropathy type 5 |
Patients with DHMN5 develop weakness and wasting most prominently of the distal upper limb. Average age of onset is in the teenage years. Weakness subsequently spreads to the distal lower limb and remains very slowly progressive. Patients may remain ambulant into later life. Mild pyramidal features may be observed. Two subtypes have been identified; 5A caused by mutations in GARS or BSCL2, and 5B caused by mutations in REEP1. |
