Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an inherited, X-linked disease that affects about 1 in 3500 - 6000 males. DMD occurs as a result of a change in the dystrophin gene located at the X chromosome (locus Xp21.2). Changes in the gene cause an absence of or defect in the protein dystrophin. Boys have one X chromosome, from their mother and one Y chromosome, from their father. So, boys inherit DMD from their mother. Females have two X chromosomes and thus two copies of the dystrophin gene. One ‘normal’ dystrophin gene usually gives enough protein to protect her from the disease.  The absent or abnormal DMD gene results in progressive muscle degeneration. In general leading to loss of independent ambulation by the age of 13 years in man.  There is a variable expression of the gene abnormality. This is mainly due to the type of mutation and the effect on the production of dystrophin. Milder forms of the disease are intermediate muscular dystrophy and Becker muscular dystrophy. Loss of ambulation happens later in life.  

Last modified
25 April 2020



ORPHA:98896 Duchenne muscular dystrophy

General Medical Guideline
DMD is characterized by progressive and severe muscle deterioration resulting from a lack of dystrophin, which provides structural stability to the muscle cell membrane.
Delayed walking, difficulty getting up from seated position, standing, a waddling gait, difficulty with running and climbing stairs, and hopping; a waddling gait, toe-walking, poor...
In Duchenne Muscular Dystrophy, Creatine Kinase is elevated 10–100 times the normal level since birth. This is often accompanied by increased transaminases, which are produced...
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