Management Team

Duchenne muscular dystrophy (DMD)

Overview

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.

  • Starts in early childhood with progressive weakness of thigh muscles in first few years of life.
  • Calf hypertrophy
  • Patient become wheelchair bound by second decade of life
  • Skeletal deformities
  • Shorter life span with death due to breathing difficulties and cardiomyopathy
  • Becker’s muscular dystrophy is similar to DMD with similar inheritance but is less severe and less common. However, cardiomyopathy is more severe and cause of death in these patients

  • Family history
  • Carrier mother
  • Male sex
  • Spontaneous mutation in DMD gene

Neurologist

  • Clinical history and examination
  • Blood tests to determine serum CPK and LDH level
  • Electromyography to determine myopathic potentials
  • Genetic analysis
  • MRI of muscle groups affected
  • Muscle biopsy for dystrophinopathies

  • Corticosteroids for delaying cardiomyopathy and preserving pulmonary functions.
  • Physiotherapy and rehabilitation
  • Supportive treatment by tracheostomy and medicines to improve cardiac function.
  • Casimersen, viltolarsen, eteplirsen, givinostat, and golodirsen are under evaluation
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