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Duchenne Muscular Dystrophy

Duchenne muscular dystropy (DMD) is a type of inherited progressive muscle disease caused by mutations in the DMD gene. Muscle weakness and other symptoms usually begin in childhood, and DMD has a shortened life expectancy.   DMD is usually seen in males, though there are some cases where females have the condition.  DMD is inherited from the mother's side of the family.

Symptoms

• Delayed motor milestones
• Difficulty walking
• Speech and learning difficulties
• Progressive muscle weakness resulting in wheelchair dependency
• Cardiomyopathy (heart muscle weakness)
• Respiratory weakness

Causes/Risk Factors

• Family history of DMD
• Genetic mutations (see below)

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Testing for women at risk for having a child with DMD
  
  • Blood draw for genetic testing of the DMD gene
• Prenatal testing
  • Amniocentesis
  • Chorionic villus sampling (CVS)

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Resources

Mucsular Dystrophy Association

National Organization for Rare Disorders

Parent Project Muscular Dystrophy

Muscular Dystrophy Campaign