Güler, Sibel Trakya Üniversitesi - Tıp Fakültesi - Nöroloji Anabilim Dalı, Türkey , Bir, Levent Sinan Pamukkale Üniversitesi - Tıp Fakültesi - Nöroloji AD, Turkey , Oğuzhanoğlu, Attila Pamukkale Üniversitesi - Tıp Fakültesi - Nöroloji AD, Turkey

Cases with familial myasthenic syndrome

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The cases of two brothers aged 38 and 43 and the relatives with similar clinical presentation, diagnosed as familial myasthenic syndrome, were presented. Clinical and electrophysiological findings supported the diagnosis of neuromuscular junction with a characteristic of the postsynaptic. As observed in some form of genetic myasthenic syndromes, a typical mandibular prognatism-high-arched palate and long face- was founded. In each case after asymmetric pitosis; ophthalmoparalysis, bulbar involvement and respiratory muscles involvement was respectively occurred. Meanwhile, the course of the disease was going on fluctuatingly. Myasthenia gravis familial form has been rarely reported in the literature. Family history and typical facial appearance is helpful for the diagnosis. Cholinesterase inhibitors are moderately useful.

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Familial myasthenia gravis , genetic factors , prognosis

Pamukkale Medical Journal

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