, Volume 258, Issue 8, pp 1559-1560
Date: 03 Mar 2011

Familial autoimmune MuSK positive myasthenia gravis

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Dear Sirs,

The familial occurrence of autoimmune myasthenia gravis (MG) with anti-acetylcholine receptor antibodies (AChR Ab) has been rarely reported [1, 2]. Different antibody specificity in family members has also been described [1, 2]. To our knowledge, a familial form of MuSK Ab positive MG has never been reported. We studied the HLA allele profile in a family with two sisters affected by MuSK positive MG.

The family is from Sardinia, with Sardinian ancestors. The father, deceased at 46 years of age, according to his family, had no symptoms suggestive of MG. The mother, two daughters and a son were asymptomatic for MG and seronegative for AChR and MuSK antibodies. Two other daughters developed MuSK positive MG in adult life.

Patient 1 (proband) A 29-year-old woman had the onset of generalized asthenia and fatigable weakness of oculobulbar muscles during her first pregnancy. Neurologic examination evidenced bilateral ptosis, diplopia and nystagmus with fatigability, dysphonia and dysp ...