NEUROMUSCULAR DISEASES

Neuromuscular Disorders

Neuromuscular disorders strike 1.5 million Americans annually, resulting in more than $5 billion in health care expenditures, daily living aid expenses and lost income.

Afflicting both young and old — and often those in the prime of life — diseases such as amyotrophic lateral sclerosis, myasthenia gravis, muscular dystrophy and peripheral neuropathy are debilitating, progressive and sometimes fatal. Weakness, paralysis, respiratory distress and intractable pain dramatically alter quality of life for both patients and families.

Minimizing disability and maximizing quality of life depend upon accurate diagnosis and prompt, appropriate treatment. Yet because symptoms of neuromuscular disorders overlap, and mimic those of a plethora of diseases, diagnosis is difficult — and often delayed.

Specialists in The Cleveland Clinic Foundation’s Neuromuscular Disease Program offer comprehensive workups to achieve prompt, accurate diagnoses and rely upon state-of-the-art treatment modalities to optimize quality of life. Ongoing, concurrent research by a diverse team of clinicians and scientists is aimed at discovering the etiology of these perplexing disorders and at investigating the most promising new treatments.

Both inpatients and outpatients benefit from well-orchestrated teamwork by Cleveland Clinic specialists and allied health professionals. Neurologists, pulmonologists, rheumatologists, pathologists, anesthesiologists, surgeons and orthopaedists join forces with orthotists, physical and occupational therapists, speech pathologists, dietitians, nurse clinicians and social workers to offer comprehensive, compassionate care for those with neuromuscular disorders.

Amyotrophic Lateral Sclerosis

The Cleveland Clinic’s Amyotrophic Lateral Sclerosis (ALS) Center is one of only six in the United States so designated by the Amyotrophic Lateral Sclerosis Association. Center specialists see more than 150 new ALS patients each year from this country, as well as from abroad.

ALS, a relentlessly progressive disease, still claims 50 percent of its victims within three years of diagnosis.

Although there is no specific treatment for this disease because its cause is unknown, specialists in the center are well-versed in both typical and atypical manifestations of ALS and are adept at distinguishing this catastrophic disease from reversible motor neuropathies. Consequently, they are frequently asked by referring physicians to confirm a diagnosis of ALS.

Once this disease is diagnosed, specialists and allied health professionals in the ALS Center offer patients comprehensive treatment in a compassionate setting. Although they cannot erase ALS’s unmistakable signature on motor neurons — weakness, atrophy and progressive skeletal muscle paralysis — team members strive to maintain, or at times restore, patients’ ability to perform daily living activities.

In creating solutions to the many challenges of ALS, Cleveland Clinic neurologists collaborate with pulmonologists, physical and occupational therapists, speech pathologists, orthotists, biomechanical engineers, dietitians and others.

Through clinical trials, they continue to probe the etiology of this enigmatic disease and to seek potentially effective therapies.

ALS patients from across the country have come to the Cleveland Clinic to participate in the first U.S. clinical trials of ciliary neurotrophic factor (CNTF). This recombinant human protein shows promise in slowing the progression of motor neuron disease. The Clinic’s ALS Center is first to formally investigate the efficacy of intravenous immunoglobulin in ALS and continues to conduct clinical trials of this therapy.

Myasthenia Gravis

Cleveland Clinic neurologists see approximately 30 new myasthenia gravis patients each year, and many more with suspected disease.

Most patients are referred without a definitive diagnosis — in myasthenia gravis, disease activity ranges from minimal to profound. Some patients exhibit only ptosis, while others develop respiratory failure. Clinic neuromuscular specialists closely follow the subtle and often fluctuating symptoms of myasthenia gravis with a variety of diagnostic and monitoring tools.

They have extensive experience, for example, with single-fiber electromyography (EMG), conducting about 50 single-fiber EMGs per year. The greatest application of this technique is in the diagnosis of myasthenia gravis, where it can detect even early cases.

Clinic neurologists, working with rheumatologists, cardiothoracic surgeons, neuro-ophthalmologists and anesthesiologists, choose the most appropriate therapy for each patient’s particular stage and presentation of disease.

Those with early-stage disease may be candidates for thymectomy, a procedure that can change the natural course of myasthenia gravis and allows more than 50 percent of patients to enter long-term remission.

Cleveland Clinic cardiothoracic surgeons have extensive experience with this procedure, performing 15 to 20 thymectomies yearly. Meanwhile, Clinic anesthesiologists ensure myasthenia gravis patients’ safety by carefully titrating anesthetics.

Medical therapy must be tailored to the patient’s needs. Drugs such as mestinon, corticosteroids, azathioprine, cyclosporine and cyclophosphamide may be used singly or in combination. Plasmapheresis is used in other patients with acute symptoms. Investigational therapies include a promising new plasma-exchange method that utilizes a unique immunoabsorbent technique to exclusively eliminate immunoglobulin from patients with circulating abnormal antibodies. With this technique it is not necessary to replace human albumin.

Neuropathies

The Cleveland Clinic is a regional referral center for all forms of neuropathy, with 150 new patients referred each year. Diabetic neuropathy, acute inflammatory demyelinating polyradiculo-neuropathies (such as Guillain-Barr syndrome) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), pose both diagnostic and management challenges.

Clinic neurologists utilize a wide range of medically appropriate diagnostic tests for neuropathy patients, including lumbar puncture, nerve biopsy and electromyography. When toxic exposure is suspected, analysis of body fluids is conducted in on-site laboratory medicine facilities.

In managing patients with neuropathies, Clinic neuromuscular specialists work closely with physical therapists, other allied health professionals and their specialist colleagues to help patients achieve the most normal lifestyle possible.

Diabetic Neuropathy

Diabetic neuropathy is the most common problem seen by the neuromuscular team. Their extensive experience has yielded the insight necessary to create an effective, systematic approach to diagnosis and management.

Virtually all of the 5.5 million U.S. patients diagnosed with diabetes develop some form of neuropathy; 400,000 suffer neuropathy to the degree that it causes chronic pain. This debilitating and often all-consuming disease frustrates patient and physician alike, often calling for innovative, multi-disciplinary treatment.

In investigating the cause of the neuropathy, Clinic neuromuscular specialists exhaustively probe for non-diabetic causes, relying heavily on electromyography. Their Quantitative Peripheral Nerve Laboratory — one of the first to be operational in the United States — offers autonomic and sensory nerve function assessment. The computer-assisted, precise examination technology used in the lab yields reproducible data for precise measurement of disease and treatment progress.

Anesthesiologists in the Pain Management Center and psychiatrists on the Pain Management Unit attenuate the pain of neuropathies as much as possible and teach patients to cope with chronic pain. Other specialists are called upon to deal with ocular and vascular complications.

Acute Inflammatory Demyelinating Polyradiculoneuropathies

Clinic neuromuscular specialists respond swiftly to rapidly progressive polyradiculoneuropathies such as Guillain-Barr syndrome. The experience these specialists have gained from treating a large volume of patients each year with acute motor, sensory or autonomic polyradiculoneuropathies provides the basis for their ability to diagnose and treat these perplexing conditions.

Team members find that plasmapheresis, sometimes in combination with special therapies such as intravenous immunoglobulin, often restores patients’ lifestyles to normal.

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

In confirming a diagnosis of CIDP, neuromuscular specialists fastidiously rule out underlying causes such as systemic lupus erythematosus, other immune disorders and malignancy. In addition to electromyography, they rely on expert in-house neuropathological analysis when nerve biopsy becomes necessary. Once CIDP is diagnosed, neuromuscular specialists choose from the latest treatment options, including plasmapheresis and a wide range of immunosuppressant therapies: corticosteroids, cyclophosphamide, azathioprine and high-dose intravenous immunoglobulin. These agents are used alone or more aggressively in combination, as dictated by disease activity.

Malignant Hyperthermia

The Cleveland Clinic is one of 23 U.S. centers, and the only one in Ohio, to test for this rare but potentially fatal familial metabolic muscle disorder. Patients at risk of malignant hyperthermia develop this potentially fatal condition upon exposure to potent, commonly used inhalational anesthetics and muscle relaxants; this disorder occurs once in every 10,000 to 100,000 surgeries.

Identifying at-risk patients is crucial to effective management. An in vitro muscle-contracture test developed at the Clinic, which meets the rigorous standards established by the North American Malignant Hyperthermia Study Group, identifies such patients. The muscle-biopsy testing program is the result of collaboration among Clinic neuromuscular specialists, anesthesiologists and plastic surgeons.

Muscular Dystrophy

The neuromuscular team treats this genetic disease of progressively severe weakness with supportive therapies designed to maximize quality of life.

Assisted by physical and occupational therapists, and orthotists, they provide compassionate, comprehensive care for patients with Duchenne, facioscapulohumeral, limb-girdle or myotonic dystrophy.

Clinic investigators are looking into possible genetic factors involved in these dystrophies in hopes of identifying their etiology and developing curative therapies.

Other Neuromuscular Disorders

Inherited congenital myopathies, polymyositis and congenital neuropathies are just a sampling of the other neuromuscular conditions that Cleveland Clinic neurologists approach with the same thoroughness and expertise.

 

NEURODIAGNOSTICS

One of the Cleveland Clinic Neuromuscular Program’s greatest strengths is its neurodiagnostic capability.

Electromyography

The Clinic’s EMG Laboratory is the largest in the state of Ohio and provides state-of-the-art electrophysiological analyses, including single-fiber EMG, macro EMG and motor-unit estimation. Its staff performs more than 3,000 EMGs yearly on a complex and diverse mix of patients. All EMGs, even with unusual clinical pictures, follow a standardized protocol developed at the Cleveland Clinic. The computerization of more than a decade of EMG data provides easy comparison of cases and greatly assists neuromuscular specialists in the identification of neuromuscular disease patterns.

Neuropathological Analysis

Cleveland Clinic neuropathologists are asked for opinions on difficult cases by physicians around the country. They also provide exhaustive analyses of muscle and nerve biopsies for Clinic neurologists, who correlate their findings with the clinical picture in these difficult cases.

RESEARCH AND EDUCATION

Cleveland Clinic neuromuscular specialists offer a nationally recognized one- or two-year fellowship in neuromuscular disease and electromyography. Teaching, conducting neuromuscular research, and involving fellows in clinical and basic investigations, bring scientists and clinicians at the Clinic closer to an understanding of the patho-genesis of neuromuscular disorders.

All clinical research is reviewed by the Clinic’s Research Program Committee and Institutional Review Board, which enforces rigorous scientific standards and the ethical treatment of study participants. Cleveland Clinic participation in multicenter trials allows for pooling of patients from various institutions to document the merits of promising new therapies.

HOW TO REFER PATIENTS

Neuromuscular specialists at the Cleveland Clinic work on a collaborative basis with referring physicians who seek diagnostic confirmation and assistance on complex cases.

Patients referred to Cleveland Clinic neuromuscular specialists can be returned to their primary physicians’ care immediately after consultation, or can be managed by Clinic specialists. In either situation, close personal communication between Clinic specialists and referring physicians is considered to be of primary importance.

Neuromuscular Program members make every attempt to coordinate patient appointments. Whenever feasible, multiple appointments are arranged for the same day, since many patients travel a good distance and may have impaired mobility. The Cleveland Clinic Foundation is also completely wheelchair-accessible.

For more information or to make a referral, please call one of the neuromuscular disease specialists below:

Hiroshi Mitsumoto, M.D.

Director

Neuromuscular Program

216/444-5418

Kerry Levin, M.D.

216/444-8370

Robert Shields Jr., M.D.

216/444-0855

Asa Wilbourn, M.D.

Head

Section of Electromyography

216/444-5544

Neurology appointments can also be made by calling 216/444-5559.