Myopathy Program

About the Center

The Muscle Disorders Clinic at MGH is a comprehensive clinic focusing on the diagnosis and care of patients with weakness due to skeletal muscle disease (or myopathy).

There are many kinds of myopathy. Some are inherited, and some are associated with other underlying medical conditions. The main symptom of myopathy is muscle weakness. This weakness most often involves muscles in the legs and arms, although other muscles (facial, respiratory and heart) may also be affected. Patients with myopathies often experience difficulty getting up from a chair or raising their arms overhead. The symptoms can be episodic or constant.

Determining the specific type of myopathy is important in guiding management and treatment. Identifying the cause may also help determine prognosis. If an inherited myopathy is suspected, a specific diagnosis may guide counseling and testing of family members. Establishing a diagnosis may also allow patients to participate in available research projects to help us understand the mechanisms of muscle disorders and to develop effective therapies.

In the myopathy clinic you will see a neuromuscular neurologist with a subspecialty expertise in muscle disorders.  You may also see a neuromuscular physiatrist (a neurologist who has had training in neuromuscular disorders and in physical medicine and rehabilitation). Consultation with these physicians can help clarify the cause of your symptoms and can provide helpful advice on maximizing your function, whether through exercise recommendations, more targeted therapy plans, bracing, assistive devices, or other medical interventions. 

Diagnostic Services

Detailed history and clinical exam

A detailed history and clinical exam are essential to guiding the diagnostic and treatment process. We strongly advise you (or your referring provider) to send us your past medical records which we will carefully review prior to your visit. This will help us anticipate and coordinate any additional tests that you may need.

You will be seen by both a Neuromuscular Fellow and Attending who will gather a detailed history and perform a thorough clinical exam.

Electrodiagnostic testing

Electrodiagnostic evaluation (also called “EMG”) is an extension of the clinical exam that is often included as part of the evaluation of patients with muscle weakness. EMG may help confirm the presence of a muscle disorder and may provide additional clues about the type of myopathy. EMG is also used to select the most appropriate muscle to biopsy, should a muscle biopsy be needed. Learn more about electrodiagnostic testing.

Muscle Biopsy

In some instances, muscle biopsies can be used to determine the cause of a muscle disorder. During a muscle biopsy, a small piece of muscle is obtained, either using a special needle (needle biopsy) or by performing an open procedure.  The piece of muscle is then processed in a laboratory to highlight several features. Learn more about muscle biopsy.

Genetic Testing and Counseling

Some myopathies are inherited. Occasionally, genetic testing is the only test needed to reach a diagnosis. As part of the clinical evaluation we will ask for your family history; this information can be used to determine whether a genetic testing might be right for you. Genetic tests (usually done by drawing blood or in some cases through collecting saliva) are available to test for many of the inherited myopathies. We provide genetic counseling prior and after genetic testing is performed.

Sometimes, we may consider whole exome or genome sequencing when the suspicion for an inherited myopathy is high but the initial genetic testing is negative. This is done in combination with MGH Genetic Service. Knowing the genetic cause of a myopathy may be helpful for family members that may be affected or at risk of developing the disease.

Forearm Exercise Test

Muscle weakness may occur in the setting of exercise. Sometimes, this may be due to a defect that prevents skeletal muscles from using sugar or fat necessary to produce energy. The forearm exercise test is sometimes used to screen for a potential defect of the sugar processing pathway. We perform the forearm exercise test in clinic by inserting a blood draw needle in your arm, drawing blood, and then having you squeeze your hand for a minute. We then draw more blood at specific intervals after exercising your arm. By measuring the chemicals that build up in the blood while exercises, we can determine whether there is a problem with the sugar processing pathway in the muscles.

Research

Research is a key component of the Mass General Myopathy Program. We aim to perform high impact research that will lead to cures for muscle diseases. The focus of our current research is on inclusion body myositis and myotonic muscular dystrophy.

Paloma Gonzalez Perez, MD, PhD, is a clinical researcher who serves as principal investigator of several studies in inclusion body myositis and myotonic dystrophies. She is the on-site principal investigator for clinical trials of novel therapies. Her research program, which aims to understand the clinical spectrum and identify monitoring biomarkers in myotonic dystrophies, has been funded by the Neuromuscular Study Group, American Academy of Neurology and the National Institute of Health. We encourage you to contact our study coordinator, Blanca Escauriaza at bescauriaza@mgh.harvard.edu, to learn more about our ongoing research studies in inclusion body myositis and myotonic muscular dystrophy.

The Thurman Wheeler, MD Muscular Dystrophy Research Lab focuses on understanding the molecular mechanisms of muscular dystrophies (such as myotonic dystrophy type 1, myotonic dystrophy type 2, facioscapulohumeral muscular dystrophy and Duchenne muscular dystrophy) and finding effective therapies for these muscle diseases. For more detailed information about his research, visit the Thurman Wheeler, MD Muscular Dystrophy Research Lab webpage.

Our Team

The members of the Myopathy Clinical and Research Program at MGH include:

• Paloma Gonzalez-Perez, MD, PhD
• Kathy Chuang, MD
• Thurman Wheeler, MD
• Virginia Clarke, BSN, RN, CCRC
• Blanca Escauriaza, RN
• Raissa Rodrigues, PharmD
• Zoe Sheitman, PT

Support Us

If you would like to make a donation to support the Myopathy Program, please contact the Mass General Development Office for more information or go to the Neuromuscular Development giving page and enter Neuromuscular Division – Myopathy Program as the specific program or area. We appreciate your interest in and support of our mission.