title: [Two cases of Duchenne muscular dystrophy over 40 years after onset].
abstract: 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.
authors.affiliation: Department of Neurology, Kumamoto Saisyunsou National Hospital.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ishizaki
authors.forename: Hidetsugu
authors.initials: H
authors.lastname: Ueyama
authors.forename: Teruaki
authors.initials: T
authors.lastname: Masuda
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Nishida
authors.forename: Shigehiro
authors.initials: S
authors.lastname: Imamura
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
mesh_terms: D006801:Humans; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000503:physiopathology*; D011788:Quality of Life; D013997:Time Factors