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- CLINICA NEUROL, 53: 293|298, 2013
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Case Report
Two cases of Duchenne muscular dystrophy over 40 years after onset
Masatoshi Ishizaki, M.D.1), Hidetsugu Ueyama, M.D.1), Teruaki Masuda, M.D.1), Yasuto Nishida, M.D.1), Shigehiro Imamura, M.D.1) and Yukio Ando, M.D.2)
1)Department of Neurology, Kumamoto Saisyunsou National Hospital
2)Department of Neurology, Graduate School of Medical Sciences, Kumamoto University
We report two 45 year old men with Duchenne muscular dystrophy. Case 1 showed a deleted exon 50 of the dystrophin gene by MLPA analysis, and Case 2 showed deleted exons 46-52. Both patients presented with severe weakness of the skeletal muscles and respiratory dysfunction, while cardiac involvement was mild and cognitive function was almost normal. The patients are able to shop at a mall, participate in activities, and attend hobbies, although they are bedridden with artificial respiration through tracheotomy. With the progress of the respiratory care and cardiac protective therapy, the prognosis of Duchenne muscular dystrophy has improved remarkably. At present, it is possible to survive over 40 years with maintenance of quality of life, if cardiac damage is not severe.
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(CLINICA NEUROL, 53: 293|298, 2013)
key words: Duchenne muscular dystrophy, advanced stage, cardiomyopathy, quality of life, dystrophin
(Received: 13-Aug-12)