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• Vol.49 No.4
• CLINICA NEUROL, 49: 167−171, 2009
• Vol.49 No.4 contents

Case Report

Late-onset sarcoglycanopathy: a cause of repeated muscle cramps after exertion

Koichi Nakao, M.D.¹⁾, Shogo Yazawa, M.D.¹⁾, Yukiko K. Hayashi, M.D.²⁾, Ichizo Nishino, M.D.²⁾, Kazutaka Shiomi, M.D.³⁾ and Masamitsu Nakazato, M.D.³⁾

¹⁾Department of Neurology, Miyazaki Prefectural Hospital of Nobeoka
²⁾Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
³⁾Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki

A 61-year-old man in generally good health had a 2-year history of repetitive episodes of muscle cramps, weakness, numbness and muscle pain of the bilateral limbs after exerting himself. During each episode, his serum creatine kinase level became elevated then recovered only after sufficient hydration had been provided. Bilateral thigh MRI showed abnormal muscular signals, and the patient was subsequently diagnosed by muscle biopsy, immunohistochemistry, and mini-multiplex western blotting analysis as having solitary sarcoglycanopathy. Late-onset sarcoglycanopathy has rarely been described. In the present patient, his mild clinical condition, subclinical cardiomyopathy and possible involvement of polyneuropathy are unique features.
Full Text of this Article in Japanese PDF (1025K)

(CLINICA NEUROL, 49: 167−171, 2009)
key words: sarcoglycanopathy, late-onset, muscle cramp, polyneuropathy, creatine kinase

(Received: 1-Apr-08)