Duchenne Muscular Dystrophy
(DMD; Pseudohypertrophic Muscular Dystrophy)
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.
DMD is caused by a faulty gene. It cannot be prevented.
Muscular Dystrophy Association
National Institute of Neurological Disorders and Stroke
Canadian Institutes of Health Research
Muscle Dystrophy Canada
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.
Last reviewed September 2019 by EBSCO Medical Review Board Laura Lei-Rivera, PT, DPT, GCS Last Updated: 7/14/2020