Distal hereditary motor neuropathy type 7 (Q103458)
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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. |
