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(DMD; Pseudohypertrophic Muscular Dystrophy)

Definition

Duchenne muscular dystrophy (DMD) is a genetic disease. It causes muscle weakness that gets worse over time.

Causes

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.

Risk Factors

DMD is more common in male children. A family history of DMD raises the risk of having the disease.

Symptoms

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
Contracture of the Hand
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Diagnosis

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

Treatment

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.

Prevention

DMD is caused by a faulty gene. It cannot be prevented.

RESOURCES

Muscular Dystrophy Association  http://www.mda.org 

National Institute of Neurological Disorders and Stroke  http://www.ninds.nih.gov 

CANADIAN RESOURCES

Canadian Institutes of Health Research  http://www.cihr-irsc.gc.ca 

Muscle Dystrophy Canada  http://www.muscle.ca 

References

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.

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