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Duchenne Muscular Dystrophy

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Duchenne Muscular Dystrophy

(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

The doctor will ask about your child’s symptoms, past health, and family history. A physical exam will be done. The exam will focus on the muscles.

DMD may be suspected based on symptoms and family history. Genetic tests will be done to confirm the diagnosis.

A sample of muscle may be tested. This can be done with a biopsy.

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 help with movement
  • A ventilator or an opening in the throat and a trach tube to help with breathing
  • Gene therapy given by IV to make proteins to stop muscle fibers from breaking down

Some people may need surgery. It may help to release tight muscles or ease curves in the back.

Prevention

There are no current guidelines to prevent DMD.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Duan D, Goemans N, et al. Duchenne muscular dystrophy. Nature Reviews Disease Primers. 2021 Feb 18;7(1):1-19.
  • Duchenne and Becker muscular dystrophies. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/duchenne-and-becker-muscular-dystrophies.
  • Duchenne muscular dystrophy. Muscular Dystrophy Association website. Available at: http://mda.org/disease/duchenne-muscular-dystrophy.

Contributors

  • Laura Lei-Rivera, PT, DPT
Last Updated:
2023-06-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.