Distal hereditary motor neuropathy type 7 (Q103458): Difference between revisions
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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. |
