Duchenne muscular dystrophy (DMD) is a genetic disease. It causes muscle weakness that gets worse over time.
DMD is caused by a faulty gene. This makes it hard for the body to make a protein called dystrophin. This protein is needed to keep muscles healthy.
DMD is more common in male children. A family history of DMD raises the risk of having the disease.
Problems may be:
- Child is late in learning to walk
- Larger than normal calf muscles
- Frequent falls
- Clumsy walking
- Problems climbing stairs
- Problems running
- Walking on toes or balls of feet
- Problems with balance
- Walking with shoulders back and belly out
- Problems keeping up with friends when playing
- Learning disabilities
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You will be asked about your child’s symptoms and health history. A physical exam will be done. You will be asked if there is any family history of muscle or nerve problems. The exam will focus on your child’s muscles. A doctor who treats these problems may be needed.
DMD may be suspected based on symptoms and family history. It can be confirmed with:
- Muscle biopsy
- Blood tests—for genetic testing
The goal of treatment is to manage symptoms as the disease gets worse. Options are:
- Medicine to improve muscle strength and slow muscle weakening
- Vitamin D and calcium supplements to strengthen bones
- Physical therapy to help with muscle strength and range of motion
- Assistive devices, such as braces, a walker, or wheelchair to support weak muscles
- A ventilator or a hole in the throat and a trach tube to help with breathing
Some patients may need surgery. It may help to release tight muscles or ease curves in the back.
Muscular Dystrophy Association http://www.mda.org
National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov
Canadian Institutes of Health Research http://www.cihr-irsc.gc.ca
Muscle Dystrophy Canada http://www.muscle.ca
Darras BT, Miller DT, et al. Dystrophinopathies. GeneReviews 2014 Nov 26.
Duchenne and Becker muscular dystrophies. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/duchenne-and-becker-muscular-dystrophies . Updated October 30, 2017. Accessed December 4, 2019.
Duchenne muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/duchenne-muscular-dystrophy. Accessed December 4, 2019.
- Reviewer: EBSCO Medical Review Board Laura Lei-Rivera, PT, DPT, GCS
- Review Date: 09/2019
- Update Date: 07/14/2020