Neuromuscular Disease Program

Phone:215-955-7952
Eduardo Adonias De Sousa, MD, Neuromuscular Electrodiagnostic Lab Director

The Neuromuscular Service of the Department of Neurology at Jefferson Hospital for Neuroscience includes a Neuromuscular Consult Service and an Electromyography Laboratory.

Our Neuromuscular Consult Service provides diagnosis and treatment for patients with diseases affecting the peripheral nerves, muscles and the neuromuscular junction, including:

• Myasthenia gravis – A disease characterized by fatigue of voluntary muscle groups, particularly of the face or upper trunk.
  
  
• Amyotrophic lateral sclerosis (Lou Gehrig’s disease) – A chronic progressive disease of motor neurons, causing weakness and muscle atrophy without sensory involvement.
  
  
• Myopathies (diseases primarily affecting the muscle cells):
  
  
• • Inflammatory myopathies – characterized by inflammation (e.g.: polymyositis, dermatomyositis, inclusion body myositis)
  • Muscular dystrophies – characterized by progressive   degeneration and/or loss of muscle fibers (myotonic dystrophy, FSHMD, Becker dystrophy)
  • Metabolic myopathies – characterized by biochemical defects resulting in disturbance of muscle energy production and acute muscle breakdown
  • Mitochondrial myopathies – characterized by abnormal cell for energy production and conversion.
    
    
• Neuropathies such as:
  
  
• • Diabetic neuropathy
  • Inflammatory neuropathies: Guillain-Barre syndrome, CIDP (chronic inflammatory demyelinating polyneuropathy)
  • Charcot-Marie-Tooth disease– Familial disorders characterized by muscle weakness and atrophy in the feet and the legs, progressing to the hands and arms, often with foot drop and a slapping gait.
  • Toxic neuropathies.

The Neuromuscular Electrodiagnostic Laboratory (EMG Lab) performs electrodiagnostic tests (nerve condition studies with electromyography, testing sensory and motor nerve function, connections between nerves and muscles, and muscle electrical function) to evaluate sensory dysfunction coming from the peripheral nerves, muscle weakness resulting from nerve or muscle disorders.  The tests may help determine if the symptoms are related to the peripheral nerve or muscle disease.  Muscle and nerve biopsy evaluations and other specialized neuromuscular tests may also be arranged.

Information about Neuromuscular Disease