Primary erythromelalgia (Q84100): Difference between revisions
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A eritromelalgia primária é caracterizada por dor em queimação intermitente, eritema e calor nas extremidades distais de mãos e pés. A forma primária é frequentemente familiar e herdada de forma autossômica dominante. Alguns pacientes apresentam mutações de ganho de função no gene SCN9A, que codifica uma subunidade do canal de sódio dependente de voltagem, Nav 1.7. | |||
| description / en | description / en | ||
Primary Erythromelalgia is characterised by intermittent burning pain, redness and warmth in the distal hands and feet. The primary form is often familial and inherited in an autosomal dominant fashion. Some patients have gain of function mutations in the SCN9A gene which encodes a voltage gated sodium channel ?-subunit, Nav 1.7. | |||
Revision as of 09:27, 15 August 2026
Primary Erythromelalgia is characterised by intermittent burning pain, redness and warmth in the distal hands and feet. The primary form is often familial and inherited in an autosomal dominant fashion. Some patients have gain of function mutations in the SCN9A gene which encodes a voltage gated sodium channel ?-subunit, Nav 1.7.
| Language | Label | Description | Also known as |
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| default for all languages | ID_327001486 |
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| English | Primary erythromelalgia |
Primary Erythromelalgia is characterised by intermittent burning pain, redness and warmth in the distal hands and feet. The primary form is often familial and inherited in an autosomal dominant fashion. Some patients have gain of function mutations in the SCN9A gene which encodes a voltage gated sodium channel ?-subunit, Nav 1.7. |
