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Specialists within Penn Neurology evaluate, diagnose and treat patients with neuromuscular conditions. As one of the oldest neuromuscular programs in the nation, we have pioneered many leading-edge diagnostic techniques and treatments available today. We work one-on-one with patients to reach an accurate diagnosis and create individualized treatment plans that will offer people the highest quality of life possible.

Types of Neuromuscular Disorders

Neuromuscular disorders are conditions that affect skeletal muscles, peripheral nerves or neuromuscular junction. Our program treats all forms of neuromuscular disorders, including:

Amyotrophic lateral sclerosis (ALS) or Lou Gehrig's Disease

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the loss of the nerve cells (motor neurons in the brain and spinal cord) that control muscles. This results in progressive muscular weakness that eventually produces physical disabilities, which culminate in life threatening weakness of breathing and/or swallowing muscles.

Charcot-Marie-Tooth (CMT) disease and other inherited neuropathies

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.

Chronic inflammatory demyelinating polyneuropathy (CIDP)

CIDP is a neuromuscular disorder characterized by progressive weakness and impaired sensory function in the legs and arms. It is an autoimmune neuropathy usually caused by damage to the myelin sheath (the insulation covering the nerve and protecting the underlying nerve fibers) of the peripheral nerves.

Guillain-Barré syndrome (GBS)

GBS is an acute neuropathy in which the body's immune system attacks part of the peripheral nervous system. In most cases, this autoimmune neuropathy is caused by damage to the myelin sheath (the insulation covering the nerve and protecting the underlying nerve fibers) of the peripheral nerves. After the first clinical manifestations of the disease, the neurologic symptoms progress over days or weeks.

Lambert-Eaton syndrome

In Lambert-Eaton syndrome antibodies prevent muscles from contracting normally. These antibodies are produced by the patient's body, and result in proximal leg and arm weakness.

Muscular dystrophies

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.

Myasthenia gravis (MG)

Myasthenia gravis (MG) is an autoimmune neuromuscular disease characterized by varying degrees of weakness of voluntary muscles of the body. Many muscles can be affected and common symptoms can include any combination of double vision, droopy eyelids, trouble chewing or swallowing, slurred speech, neck weakness, limb weakness or shortness of breath.


Acquired myopathies are a diverse group of disorders in which the primary symptom is muscle weakness. Muscle dysfunction most commonly produces progressive weakness of the arms and legs. There are many causes of myopathy, including those due to inflammation in the muscles themselves (polymyositis, dermatomyositis and inclusion body myositis). Myopathies can also be caused by various medical diseases and even by certain drugs, such as those that are used to control elevated blood cholesterol.

Peripheral neuropathies

Peripheral neuropathies are a diverse group of disorders, all of which affect the nerve fibers of the body outside of the brain and spinal cord. These disorders can cause a combination of neurologic symptoms including weakness, numbness and pain in the arms, hands, legs and feet.

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)

Treating Neuromuscular Disorders

Penn Neurology offers comprehensive treatment and coordinated care for all types of neuromuscular disorders.

ALS or Lou Gehrig's Disease

The Penn Comprehensive ALS Center provides interdisciplinary team care to patients with ALS. The ALS team consists of experienced providers from neurology, pulmonology, nursing, physical and occupational therapy, speech therapy, nutrition, social service, mental health, genetic counseling, and assistive technology.

Charcot-Marie-Tooth (CMT) Disease and Inherited Neuropathies

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.

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and Guillain-Barré Syndrome (GBS)

The Hospital of the University of Pennsylvania serves as one of 12 sites in the United Stated designated as a GBS/CIDP Center of Excellence by the GBS/CIDP Foundation International. Based on levels of expertise, available treatments, facilities, and research capabilities these medical centers have been designated as regional centers of excellence.

Effective treatments for CIDP include corticosteroids (such as prednisone) or intravenous immunoglobulin (IVIG). Less commonly, plasma exchange (plasmapheresis) is used. These treatments may be prescribed alone or in combination with other immunosuppressant drugs. Physical therapy plays an important role in combination with the medical treatments. Physical therapy may help with improvement in muscle strength, as well as overall function and mobility.

Effective treatments for GBS include intravenous immunoglobulin (IVIG) or plasma exchange (plasmapheresis). Both treatments are equally effective. Physical therapy plays an important role in combination with the medical treatments and may help with improvement in muscle strength, as well as overall function and mobility.

Muscular Dystrophies

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.

Myasthenia Gravis (MG) and Lambert-Eaton Syndrome

The MG Clinic at the Hospital of the University of Pennsylvania is supported by the MDA. Treatment often requires adjustment of immunosuppressant medications. Physical therapy is generally prescribed and therapeutic exercise plays a large role in management of the muscle weakness in most patients. There is a strong emphasis on patient and family education with respect to future care and prognosis.

Myopathies (Acquired Muscle Diseases)

Adults with acquired myopathies (polymyositis, dermatomyositis and inclusion body myositis) are cared for at the MDA Clinic at the Hospital of the University of Pennsylvania. The MDA maintains a network of 200 specialized clinics across the United States. Once a diagnosis is made, appropriate treatment will be implemented, including adjustment of immunosuppressant medications if needed. Physical therapy is generally prescribed and therapeutic exercise plays a large role in management of the muscle weakness in most patients.

Peripheral Neuropathies

Penn's Neuromuscular Disorders Program has a long history of being one of the leading groups in the world providing clinical care for people with neuropathy, doing original research on neuropathy, and training neuropathy specialists. We have nationally recognized clinical centers of excellence in GBS/CIDP and CMT. We also have active, funded research projects on the causes of inherited neuropathies (led by Dr. Steven Scherer) and immune-mediated neuropathies (led by Dr. Eric Lancaster). Achieving an accurate diagnosis is the first step in formulating a management plan. Physicians review the management options and work with the patient to develop an individualized treatment plan. In some cases, this will focus on treatment of the underlying medical condition that causes neuropathy. In other cases, there may be specific medications used to treat the neuropathy and improve strength and sensation. Treatment medications may include medications for neuropathic pain and immune-modulating treatments.


In This Section

Treatment Team

Meet the team of experts who specialize in neuromuscular disorders.

Penn Comprehensive ALS Center

The ALS program at Penn Medicine has been designed to provide all around care for people with ALS and their families throughout the course of the illness.

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