Dystrophinopathies: Duchenne and Becker Muscular Dystrophies
摘要
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of young age with positive Gower’s sign, pseudohypertrophy of muscles, and significantly elevated CK levels. It is X-linked recessive and is readily diagnosed with the help of genetic testing. BMD is a milder form of DMD, having a better prognosis. Therapeutic approaches targeting genetic abnormalities are expected to yield good results. Ataluren is conditionally approved for therapy.