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
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 may need surgery. It may help to release tight muscles or ease curves in the back.
- Reviewer: EBSCO Medical Review Board Laura Lei-Rivera, PT, DPT, GCS
- Review Date: 09/2019 -
- Update Date: 12/04/2019 -