Duchenne Muscular Dystrophy: Symptoms, Causes, Treatment

A protein protecting muscle fibers is affected, leading to progressive weakness and possible heart or breathing involvement. Progression and needs vary. Rehabilitation and mobility aids support independence and participation.

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Delayed walking, frequent falls, trouble running or climbing stairs and using the hands to rise from the floor may occur. These findings need assessment rather than being dismissed as laziness.

The disorder results from a dystrophin-gene variant on the X chromosome, inherited or newly arising. Some female carriers develop muscle or cardiac manifestations and need appropriate assessment.

X-linked inheritance makes males more commonly affected, but absence of family history does not exclude the disorder. Genetic counseling guides assessment of relatives and reproductive options without assuming they are affected.

Evaluation includes neurological examination, muscle-enzyme testing and dystrophin-gene analysis. Additional investigations may clarify the diagnosis and treatment eligibility, with baseline cardiac and respiratory assessment.

Care combines rehabilitation, cardiac and respiratory management and specialist-selected medicines. Mutation-directed or gene therapies do not suit every variant or disease stage. The US Elevidys indication was restricted to selected ambulatory patients with a serious liver-injury warning; current eligibility and local availability require verification.

Complications may include contractures, scoliosis, cardiomyopathy, respiratory weakness and bone problems. Care also addresses learning, nutrition and mental health rather than focusing on muscles alone.

Follow-up, stretching, suitable activity and team-advised vaccination help reduce complications. Do not abruptly stop long-term steroids. Inform the anesthesia team of the diagnosis and medicines before any procedure.