Myasthenia gravis, familial (Q88657)
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Family history is positive in 3-5% of Myasthenia Gravis (MG) patients. Most commonly affected patients are of the same generation. Age at onset 2-20 years. The clinical picture is similar to that of non-familial MG with ocular, oculobulbar or generalised MG. In an Italian-American family with parental consanguinity where 5 out of 10 siblings had late-onset autoimmune MG manifesting with ptosis, diplopia, and weakness in the neck and extremities a homozygous sequence variant in the Ecto-NOX Disulfide-Thiol exchanger 1 (ENOX1) gene was found.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1678732111 |
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| English | Myasthenia gravis, familial |
Family history is positive in 3-5% of Myasthenia Gravis (MG) patients. Most commonly affected patients are of the same generation. Age at onset 2-20 years. The clinical picture is similar to that of non-familial MG with ocular, oculobulbar or generalised MG. In an Italian-American family with parental consanguinity where 5 out of 10 siblings had late-onset autoimmune MG manifesting with ptosis, diplopia, and weakness in the neck and extremities a homozygous sequence variant in the Ecto-NOX Disulfide-Thiol exchanger 1 (ENOX1) gene was found. |
