An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
    

concept

Genetics frame of reference - the size of various genetic components, including DNA, a base pair, various sizes of deletions, chromosomes and genes are listed and compared with more familiar objects such as the Solar System, planets, cities, hospitals, wards, and so on.

Duchenne muscular dystrophy control, FISH

Duchenne muscular dystrophy deletion, FISH

Duchenne muscular dystrophy - normal female, chromosomes have been highlighted by a fluorescent probe for exon 45/47 (note the double yellow band). This disorder is caused by a recessive gene on the X chromosome, so is normally shown only by males, who lack a second X chromosome. The condition starts with difficulty in walking and climbing stairs in early childhood, usually resulting in confinement to a wheelchair by the age of 10, with death from respiratory infection or cardiac failure by about the age of 20.

Nerve in skeletal muscle, showing dystrophin location

Muscle disorders and myoclonus.

Duchenne muscular dystrophy pedigree chart

Animals save lives / Research for Health Charities Group.

Muscle disorders in children.

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Muscular Dystrophy, Duchenne

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Muscle disorders and myoclonus.

Duchenne muscular dystrophy pedigree chart

Animals save lives / Research for Health Charities Group.

Muscle disorders in children.

Duchenne muscular dystrophy deletion, FISH