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Duchenne Muscular Dystrophy (DMD)

Overview

Duchenne muscular dystrophy (DMD) is a progressive genetic disorder presented by gradual muscle weakness. It is inherited in an X-linked recessive pattern, meaning that only the male members of the family manifest the disease, while females are the carriers of the disease.

Children with DMD usually show symptoms in the first few years of life. Common signs include:

  • Progressive weakness of thigh muscles in first few years of life.
  • Calf hypertrophy (Enlargement of calf muscles)
  • Difficulty walking, leading to wheelchair use by teenage years
  • Skeletal deformities such as spinal curvature (scoliosis)
  • Breathing difficulties in later stages
  • Shortened life span due to respiratory failure or cardiomyopathy (disease of the heart muscle)

DMD is caused by mutations in the DMD gene, which prevents the production of dystrophin (a protein needed for healthy muscle function). This leads to gradual muscle damage and weakness.

Doctors may use several tests to confirm DMD:

  • Clinical history and examination: observing muscle weakness patterns
  • Blood tests: to determine elevated levels of muscle enzymes (serum CPK and LDH levels)
  • Electromyography: to determine myopathic potentials (electrical activity in muscles)
  • Genetic analysis: to identify mutations in the dystrophin gene
  • MRI of muscle groups affected: to detect areas of muscle loss
  • Muscle biopsy: to check for dystrophinopathies

There is currently no cure for DMD, but treatments can slow progression and improve quality of life:

  • Corticosteroids: for delaying cardiomyopathy and preserving pulmonary functions.
  • Physiotherapy and rehabilitation: to maintain mobility and prevent contractures
  • Supportive treatment: by tracheostomy and medicines to improve cardiac function.
  • New therapies under research: drugs such as casimersen, viltolarsen, eteplirsen, givinostat, and golodirsen are under evaluation for their role in slowing disease progression.

Parents should consult a doctor if a child shows:

  • Delayed milestones (difficulty walking, frequent falls, trouble climbing stairs)
  • Unusual calf muscle enlargement
  • Difficulty running compared to other children
  • Breathing problems or unexplained fatigue

DMD cannot be completely prevented, but genetic counselling for families with known mutations can reduce risk.

For diagnosis and management of DMD, consult a Neurologist (specialist in brain and nerve disorders).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.