Distal hereditary motor neuropathy type 1 (Q103443): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Pacientes com NMHD1 desenvolvem fraqueza distal dos membros inferiores com ou sem pés cavos, tipicamente na primeira década de vida. Alguns pacientes podem apresentar aumento do tônus muscular dos membros inferiores ou respostas plantares extensoras. A fraqueza é lentamente progressiva, mas a expectativa de vida é normal. As análises de ligação identificaram um locus da doença em 7q34-q36. | |||
| description / en | description / en | ||
Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36. | |||
Revision as of 09:12, 17 August 2026
Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1049436513 |
||
| English | Distal hereditary motor neuropathy type 1 |
Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36. |
