Distal hereditary motor neuropathy type 2 (Q103456): Difference between revisions
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Pacientes com NMHD2 desenvolvem fraqueza distal nos membros inferiores mais comumente no início da idade adulta. A fraqueza progride nos membros inferiores e subsequentemente envolve os membros superiores distais. Os reflexos tendinosos profundos são comumente diminuídos. Existem 4 subtipos; 2A, 2B, 2C e 2D com fenótipos clínicos semelhantes, mas diferentes mutações genéticas (nos genes HSPB8, HSPB1, HSPB3 e FBXO38, respectivamente). | |||
| description / en | description / en | ||
Patients with DHMN2 develop distal lower limb weakness most commonly in early adulthood. Weakness progresses in the lower limbs and subsequently involves the distal upper limbs. Deep tendon reflexes are commonly depressed. There are 4 subtypes; 2A, 2B, 2C,and 2D with similar clinical phenotypes but different genetic mutations (in HSPB8, HSPB1, HSPB3, and FBXO38 genes respectively). | |||
Revision as of 09:13, 17 August 2026
Patients with DHMN2 develop distal lower limb weakness most commonly in early adulthood. Weakness progresses in the lower limbs and subsequently involves the distal upper limbs. Deep tendon reflexes are commonly depressed. There are 4 subtypes; 2A, 2B, 2C,and 2D with similar clinical phenotypes but different genetic mutations (in HSPB8, HSPB1, HSPB3, and FBXO38 genes respectively).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_152961055 |
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| English | Distal hereditary motor neuropathy type 2 |
Patients with DHMN2 develop distal lower limb weakness most commonly in early adulthood. Weakness progresses in the lower limbs and subsequently involves the distal upper limbs. Deep tendon reflexes are commonly depressed. There are 4 subtypes; 2A, 2B, 2C,and 2D with similar clinical phenotypes but different genetic mutations (in HSPB8, HSPB1, HSPB3, and FBXO38 genes respectively). |
