What Is Muscular Dystrophy?

Muscular dystrophies are a group of different genetic diseases characterized by progressive weakness due to degeneration of the muscles that control movement. Some forms are seen in childhood, but other types may begin later in life. The disorders differ in terms of the distribution of and extent of muscle weakness, rate of progression and pattern of inheritance.

Diagnosis of Muscular Dystrophy

Diagnosing neuromuscular illness can be a complex process. A broad range of diseases can affect nerves and muscles, and often produce similar symptoms, such as weakness and numbness. Penn's Neuromuscular Disorders Program offers consultations and comprehensive neurodiagnostic studies to help with difficult diagnosis. A Penn neuromuscular specialist reviews the complete medical history, and performs a comprehensive neuromuscular examination, of each patient. When appropriate, our specialists use our technologically advanced neurodiagnostic facilities.

Diagnostic testing includes:

  • Biochemical and genetic testing
  • Computerized tomography (CT)
  • Lumbar puncture (spinal tap)
  • Magnetic resonance imaging (MRI)
  • Nerve and muscle biopsy
  • Nerve conduction studies and electromyography (EMG)

Treatment at Penn

Adults with inherited myopathies (muscular dystrophies and congenital myopathies) are cared for at the Muscular Dystrophy Association (MDA) Clinic at the Hospital of the University of Pennsylvania. There is a great focus on education for patients and families about their conditions and what may be expected with respect to future care and prognosis. Certain disorders require aggressive monitoring of cardiac health, pulmonary health, and swallowing function, and we have a cohesive team to accomplish this. Typical treatments may include medications, physical therapy, and mobility aids.

In addition, we have an established relationship with the Children's Hospital of Philadelphia (CHOP) and we assume care of individuals with childhood muscle disease once they reach adulthood. We share a joint conference with the neuromuscular specialists at CHOP and frequently confer about diagnostic and care issues, making the transition to adult care as seamless as possible.

Penn Programs & Services for Muscular Dystrophy

Neuromuscular Disorders

Our neuromuscular disorders program provides the latest advancements in the evaluation, diagnosis and treatment for all types of neuromuscular disorders, such as ALS, Guillain-Barré syndrome (GBS) and muscular dystrophies.

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