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• Vol.55 No.8
• CLINICA NEUROL, 55: 585−588, 2015
• Vol.55 No.8 contents

Brief Clinical Note

A case of limb-girdle muscular dystrophy 2M diagnosed by the occurence of dilated cardiomyopathy

Misa Matsui, M.D.¹⁾, Takuyuki Endo, M.D., Ph.D.¹⁾, Tsuyoshi Matsumura, M.D., Ph.D.¹⁾, Toshio Saito, M.D., Ph.D.¹⁾ and Harutoshi Fujimura, M.D., Ph.D.¹⁾

¹⁾Department of Neurology, National Hospital Organization Toneyama National Hospital

We report a 24-year-old Japanese man initially suspected to have Becker's muscular dystrophy at the age of 6 years, because of a high level of creatine kinase in serum, though he discontinued visiting the hospital. At the age of 23, he was admitted to the hospital for severe dilated cardiomyopathy, and subsequently diagnosed with limb-girdle muscular dystrophy2M (LGMD2M) based on muscle biopsy and gene analysis. It was recently reported that some patients with fukutinopathy develop LGMD. Most of the cases reported in Japan showed mild skeletal muscle involvement despite serious cardiomyopathy, which may sometimes the initial symptom of the disease. Since muscular dystrophy patients can evelop severe cardiac failure, irrespective of the severity of skeletal muscle involvement, regular examinations of cardiopulmonary function are necessary.
Full Text of this Article in Japanese PDF (472K)

(CLINICA NEUROL, 55: 585−588, 2015)
key words: limb-girdle muscular dystrophy 2M, dilated cardiomyopathy, fukutinopathy, α-dystroglycan, high serum cretine kinase

(Received: 25-Nov-14)