Muscular Dystrophy in Children

What is muscular dystrophy?

Muscular dystrophy is a group of genetic diseases that affect the nervous system and cause progressive muscle weakening and degeneration. The primary muscular dystrophy symptom is muscle wasting (a decrease in muscle size and strength).

Types of muscular dystrophy

There are nine major groupings of muscular dystrophy. The groupings are characterized by the location and extent of muscle weakness (myopathy) and the genetic abnormality that caused the disease. They include some of the following:

• Becker muscular dystrophy
• Congenital muscular dystrophy
• Duchenne muscular dystrophy
• Facioscapulohumeral muscular dystrophy
• Limb girdle muscular dystrophy
• Myotonic muscular dystrophy

Muscular dystrophy: what you should know

• Muscular dystrophy is a progressive, debilitating condition that can be life-limiting, depending on the type.
• Aggressive treatment involving many specialties is effective at extending survival, particularly for children born with Duchenne muscular dystrophy.
• Many muscular dystrophy patients are at greater risk of developing scoliosis, breathing problems, respiratory infection and swallowing difficulty (dysphagia).
• Women with a family history of muscular dystrophy who wish to become pregnant may opt to undergo genetic testing. This may help determine whether they are carriers of the gene that causes the disease.

How can I get help for muscular dystrophy?

• Neuromuscular experts at Rush can help you obtain an accurate diagnosis of which type of muscular dystrophy you have so you can begin treatment as soon as possible.
• Diagnostic tests for muscular dystrophy may include the following:
  • Nerve conduction study and electromyography (EMG). This test looks for damage in the junctions where muscles meet nerves and measures your nerve function and health.
  • Blood tests, including genetic testing

Care for muscular dystrophy at Rush

Muscular dystrophy cannot currently be cured. Your care at Rush may involve some of the following:

• Comprehensive muscular dystrophy care requires a team of experts. Your team at Rush will include many of the following specialists:
  • Neuromuscular physicians
  • Pediatric neurologist
  • Orthopedic surgeon
  • Orthotics specialist
  • Mobility specialist (including help finding the proper fit for a wheelchair)
  • Geneticist
  • Cardiologist
  • Pulmonologist
  • Occupational therapists and physical therapists
  • Nutritionist
  • Social worker
• Medications: Your neuromuscular team can offer the latest medications to treat muscle weakness, heart problems and other common complications.
• Assisted ventilation: Due to muscle weakness in the lungs, many patients require some form of assisted ventilation to address breathing difficulty (dyspnea). Patients with Duchenne muscular dystrophy, in particular, may require nighttime ventilation due to sleep apnea.
• Physical and occupational therapy: This therapy can help you maintain muscle function and prevent joint stiffening (contractures); in addition, your therapists can help with the following:
  • Assess your function with orthotics (braces) and help you improve it, if needed
  • Provide guidance on safety issues, such as balance training and your risk for falls
  • Help you find the best assistive device for your needs (for example, a cane versus a walker)
• Surgery: Some patients benefit from muscle-release surgery (sometimes called heel cord release or Achilles tendon release) to treat contractures and improve mobility. In addition, patients with severe curvatures of the spine may require scoliosis surgery to improve breathing.