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Myasthenia gravis (MG) is an autoimmune disorder caused by autoimmune attack at the neuromuscular junction. Approximately 80–90% of patients have detectable serum anti-acetylcholine receptor antibodies (anti-AChR Ab)1 and 40–50% of anti-AChR Ab negative patients have antibodies to muscle specific kinase (MuSK).2 Most cases of familial MG are congenital and caused by hereditary defects in neuromuscular transmission. Familial cases of autoimmune MG with anti-AChR Ab are extremely rare.3 We report a case of familial autoimmune MG with different antibody specificity.
Case 1.
The mother, aged 45 years, was admitted to our hospital because of generalized weakness, difficulty in swallowing and speaking, double vision, and ptosis. Onset of the disease was 2 years previously. She had a history of mild sideropenic anemia. Neurologic examination and additional diagnostic tests (table) confirmed the diagnosis of MG. Serum anti-AChR Ab titer was elevated, while anti-MuSK Ab were negative. Treatment with pyridostigmine (180 mg/day) and prednisolone (60 mg on alternate day) resulted in improvement, and after several weeks thymectomy was performed.
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Table Clinical and laboratory findings in mother and daughter upon admission to the hospital
Over the next 6 months she improved significantly (MGQS 6) and she is now in …
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