Current and emerging therapies in Becker muscular dystrophy (BMD)

Corrado Angelini, Roberta Marozzo, Valentina Pegoraro

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)172-179
Number of pages8
JournalActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Volume38
Issue number3
Publication statusPublished - Sep 2019

Cite this

Current and emerging therapies in Becker muscular dystrophy (BMD). / Angelini, Corrado; Marozzo, Roberta; Pegoraro, Valentina.

In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, Vol. 38, No. 3, 09.2019, p. 172-179.

Research output: Contribution to journalArticle

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