Myasthenia gravis, familial (Q88657): Difference between revisions

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Latest revision as of 14:59, 15 August 2026

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
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.