What Is Charcot-Marie Tooth Disease?

Charcot-Marie-Tooth disease (CMT) is the most commonly used name for a wide variety of inherited neuropathies. More than 70 different genes that cause CMT have been identified, several by Penn clinician-scientists. Collectively, the various forms of CMT are among the most common, inherited diseases of the nervous system, affecting 1 in 2,500 people.

Diagnosis of Charcot-Marie Tooth Disease

Diagnosing Neuromuscular Disorders

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

The MDA in partnership with the Charcot-Marie-Tooth Association (CMTA) sponsors a CMT Center of Excellence at the Hospital of the University of Pennsylvania, one of seven such centers in North America. Our clinical team provides advanced care for adults who have CMT. Our physicians are part of the Inherited Neuropathy Consortium, which is an NIH-supported group that engages Patient-Oriented Groups, performs a variety of clinical studies on people who have CMT, and will be engaged in clinical trials for CMT when available. Treatment for CMT may include medications, physical therapy, occupational therapy, orthopaedic devices that maintain mobility and prevent injury and surgery.

Penn Programs & Services for Charcot-Marie Tooth Disease

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. 

Neuro-Orthopaedics

The latest advances in diagnosis and treatment for conditions like brain injury and stroke

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