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- W2980461566 abstract "Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the presenting feature. The evolution is variable. BMD is caused by dystrophin deficiency due to inframe deletions, mutations or duplications in dystrophin gene (Xp21.2) We review here the evolution and current therapy presenting a personal series of cases followed for over two decades, with multifactorial treatment regimen. Early treatment includes steroid treatment that has been analized and personalized for each case. Early treatment of cardiomyopathy with ACE inhibitors is recommended and referral for cardiac transplantation is appropriate in severe cases. Management includes multidisciplinary care with physiotherapy to reduce joint contractures and prolong walking. BMD is slowly progressive with phenotypic variability. Despite childhood onset, independent walking is never lost before the third decade. Personalized medicine is required to tailor treatment to individual cases." @default.
- W2980461566 created "2019-10-25" @default.
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- W2980461566 date "2019-09-01" @default.
- W2980461566 modified "2023-10-03" @default.
- W2980461566 title "Current and emerging therapies in Becker muscular dystrophy (BMD)." @default.
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