Distal hereditary motor neuropathy type 7 (Q103458): Difference between revisions
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Pacientes com NMHD7 apresentam fraqueza e atrofia distal dos membros na segunda década. As mãos podem ser afetadas primeiro. Outras características incluem pés cavus e hiporreflexia. A paresia das cordas vocais é um aspecto característico. A fraqueza é lentamente progressiva. NMHD tipos 7A e 7B foram identificados com mutações em SLC5A7 (2q12.3) e DCTN1 (2p13.1), respectivamente. | |||
| description / en | description / en | ||
Patients with DHMN7 present with distal limb weakness and wasting in the second decade. Hands may be first affected. Other features include pes cavus and hyporeflexia. Vocal cord paresis is a characteristic feature. Weakness is slowly progressive. DHMN types 7A and 7B have been identified with mutations in SLC5A7 (2q12.3) and DCTN1 (2p13.1) respectively. | |||
Revision as of 09:13, 17 August 2026
Patients with DHMN7 present with distal limb weakness and wasting in the second decade. Hands may be first affected. Other features include pes cavus and hyporeflexia. Vocal cord paresis is a characteristic feature. Weakness is slowly progressive. DHMN types 7A and 7B have been identified with mutations in SLC5A7 (2q12.3) and DCTN1 (2p13.1) respectively.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_80361835 |
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| English | Distal hereditary motor neuropathy type 7 |
Patients with DHMN7 present with distal limb weakness and wasting in the second decade. Hands may be first affected. Other features include pes cavus and hyporeflexia. Vocal cord paresis is a characteristic feature. Weakness is slowly progressive. DHMN types 7A and 7B have been identified with mutations in SLC5A7 (2q12.3) and DCTN1 (2p13.1) respectively. |
