The Neuromuscular Program provides primary and referral services for all disorders of the peripheral nerves and muscles. We are a fully funded MDA-ALS clinic.
We specialize in:
- Myasthenia Gravis
- Myopathy (polymyositis, dermatomyositis, inclusion body myositis),
- Neuropathy (CIDP, CMT and other inherited neuropathies, Guillain-Barre, diabetic neuropathy, undiagnosed),
- Muscular Dystrophy (FSH, Duchenne, Becker, Limb-Girdle, Myotonic, Oculopharyngeal),
- Stiff-Person Syndrome, and
- related disorders.
The Neuromuscular Program is dedicated to the delivery of expert clinical care as well as to the education of both patients and colleagues at all levels of training. Members of the Program faculty are all board certified/eligible neurologists with special training in neuromuscular disease and electromyography. The Program is very active in basic science and clinical research in various areas of neuromuscular disease, with faculty as members of both the Northeast ALS Alliance Consortium (NEALS) and the World Federation of Neurology ALS Consortium.
Our clinic is a tertiary referral site for complex neuromuscular conditions. We serve as consultants to general neurologists, internists and many other specialists. Specialists in Neuromuscular Disorders possess specialized knowledge in the science, clinical evaluation, or clinical management of disorders of anterior horn cell, peripheral nerve, neuromuscular junction, and muscle. This encompasses knowledge of the pathophysiology, pathology, diagnosis, and treatment of these disorders at a level that is significantly beyond the training and knowledge expected of a general neurologist.
The term EMG is often used to refer to both electromyography and nerve conduction studies. Electromyography is the technique of using electrodes to directly investigate the electrical activity of muscle. Nerve conduction studies use small pulses of electricity to measure the conducting properties of the nerves. Together they are used to investigate and diagnose the entire spectrum of neuromuscular diseases, such as ALS, neuropathy, carpal tunnel syndrome, muscular dystrophy, Guillaine-Barre syndrome, myositis, and others. The electomyographers at Yale use the latest EMG equipment to perform all available specialized EMG techniques, including Quantitative EMG, Blink Reflex, Single Fiber EMG, and others.
A specialized type of nerve conduction study, called the Jolly test (which includes repetitive nerve stimulation), is also used in the diagnosis of Myasthenia Gravis (MG). There is also a more sophisticated technique, called a single fiber EMG, which is currently the most sensitive test for MG. Yale is one of the few centers in the Northeast with several electromyographers who are expert in this technique.
Besides specializing in electromyography our division treats a broad array of neuromuscular disorders. The following is a short list of some of the disorders treated and managed by our division:
Contact InformationOur patients and families are treated with respect. We try not to have your office visit interrupted with phone calls. Phone calls are returned by the end of the day. Please be sure to leave a detailed message, along with telephone number(s) at which you can be reached. If you feel your call is urgent, please let the receptionist know immediately so that your call is dealt with promptly. You may contact the office at any time for questions regarding patient records at (203) 785-4085.
The Yale ALS Clinic is a fully funded MDA-ALS site that offers comprehensive evaluation of patients with motor neuron disorders. We treat patients with ALS, PLS, PMA, PBP, MMN and other motor neuron disorders (polio, post-polio syndrome, etc.). The clinic is directed by Dr. Babar Khokhar and there are a team of specialists available to assist with patient care, including a mobility expert, an orthotics/prosthetics expert, and a representative from the Muscular Dystrophy Association (MDA). Pulmonary functions tests are also performed in the PFT lab during the visit. We coordinate different clinical services to help minimize the number of visits as we understand it can be difficult to travel for our patients.
We are a member of the Northeast ALS Consortium (NEALS), which is an international organization dedicated ALS research. There are currently multiple trials available through this organization and our clinic can assist patients who are interested in enrolling. For additional information please visit the NEALS website. There are also many other active clinical trials across the United States and internationally. To view a list of all of these available trials please visit the National Institute of Health online registry.
We have a MDA sponsored support group that meets every 3rd Monday of the month at Gaylord Hospital and is open to all patients and families affected by ALS or other motor neuron disorders. For more information about the support group or other services provided by the MDA please call their Connecticut office at 203-248-6500.
For more information about our clinic or to schedule an appointment please call 203-785-4085. Referrals can also be faxed to 203-785-3732. Please visit the Charlie Fund for ALS Clinical Support and Research page to learn more about that program.
Yale Myasthenia Gravis Clinic
The Yale Myasthenia Gravis Clinic offers comprehensive diagnostic evaluation, consultation, treatment and management for patients with myasthenia gravis (MG) from around the world and is one of the largest in the Northeast US. The clinic is directed by Dr. Richard Nowak and is dedicated to excellence in the care of patients with MG as well as the pursuit of new approaches in treatment through translational research. Faculty members in our department are among the nation’s experts in rare neuromuscular diseases such as myasthenia gravis and Lambert-Eaton myasthenic syndrome (LEMS). These diseases are characterized by muscle weakness caused by disturbances in the normal communication between nerves and muscles.
What is myasthenia gravis?
Myasthenia gravis is an autoimmune disease in which antibodies produced by the body attack the receptors responsible for binding neurotransmitters (brain chemicals) on the muscles side of the synapse, the space between the end of a nerve cell and the muscle cell. Acetylcholine is the specific neurotransmitter that normally transmits impulses between nerves and muscles. In MG, the acetylcholine is blocked by antibodies to its receptor, which results in muscle weakness. Click here for more information about Myasthenia Gravis.
Patients at Yale have access to the most advanced services available, including the following:
- Sophisticated electromyography (EMG) tests and other advanced diagnostics.
- Innovative medical therapies, including the latest prescription medicines.
- Minimally invasive thymus surgery.
- Clinical trials.
We provide initial consultations as well as second opinions regarding diagnosis and management. To make a referral to the clinic please call 203-785-4085 or fax a referral to 203-785-3732. If you interested in learning more about research and clinical trials offered, please visit the Program in Clinical & Translational Neuromuscular Research webpage.
Research in Neuromuscular Disorders
Program in Clinical and Translational Neuromuscular Research
This translational research program is focused on bridging the gap between clinical care and the basic sciences in neuromuscular disorders. While this program is based within the Division of Neuromuscular Medicine, we are committed to collaboration across many disciplines, such as immunology, genetics and biochemistry. Our primary research focus has been on immune-mediated neuromuscular diseases, such as myasthenia gravis (MG) and inflammatory neuropathies and myopathies (i.e., Guillain-Barré syndrome, Inclusion Body Myositis). Preliminary observations by our group and others showing the benefit of B cell targeted therapy for MG have compelled us to explore this further. Plans are underway for a prospective trial of rituximab in MG. Biomarker discovery and working to the end of patient-tailored treatment strategy development is our major overall objective.
We are also planning investigation of the hereditary neuropathies (i.e., Charcot Marie Tooth disease). Our program is a part of the Muscle Study Group (MSG), which is a consortium of scientific investigators among academic and research centers committed to the cooperative planning, implementation, analysis and reporting of controlled clinical trials and of other research for muscle and other neuromuscular diseases.