Neuromuscular Disorders

What are Neuromuscular Disorders?

Neuromuscular disorders refer to problems that affect nerves controlling voluntary muscles—the ones we use to move parts of our body. The most common symptom of these wide-ranging diseases is muscle weakness.

UR Medicine's Treatments for Neuromuscular Disorders

Our Neuromuscular Disease Center provides diagnosis and treatment for both adults and children. The Neuromuscular Disease Center includes several specialty clinics:

Acquired Peripheral Neuropathy Clinic (CIDP, GBS, other)
ALS Clinic
Autoimmune Neuromuscular Disorders (Myasthenia Gravis, Myositis)
Cure SMA (Spinal Muscular Atrophy) Center of Excellence
General Pediatric Neuromuscular Disorders
Inherited Neuropathies (CMT, Hereditary Amyloidosis, other)
Muscular Dystrophy Association (MDA) Clinic (FSHD, Myotonic Dystrophy, other Muscular Dystrophies and Congenial Myopathies and Metabolic Myopathies (e.g., Pompe Disease), Periodic Paralysis, etc.)
PPMD Duchenne Muscular Dystrophy Clinic

Our neuromuscular laboratories include the University of Rochester Neurology EMG laboratory, which uses state-of-the art ultrasound, and the Neuromuscular Pathology laboratory offering muscle, nerve, and skin biopsy (small fiber neuropathy) diagnostic services.

Video: Dr. Charles Thornton studies myotonic dystrophy—a common adult form of muscular dystrophy. Working with patients, their families, fellow scientists, and biotech companies, Dr. Thornton is searching for new and innovative ways to improve the lives of individuals with this disease.

What Sets Us Apart?

Our team of experts specialize in what’s needed to care for all forms of childhood and adult childhood neuromuscular disease. We coordinate care tailored to the needs of patients and families, in partnership with the Muscular Dystrophy Association.

As part of an academic medical center, our clinicians are also active in research, serving as Principal Investigators for national and international multi-center trials. URMC has been home to:

NIH-funded Wellstone Muscular Dystrophy Cooperative Research Centers
PPMD Duchenne Muscular Dystrophy Center
SMA Cures Center of Excellence
An NIH-funded Inherited Neuropathies Consortium Rare Diseases Clinical Research Network site

Our faculty study disorders including ALS, Charcot Marie Tooth Neuropathies (CMT), Duchenne Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy (FSHD), Myotonic Dystrophy, and Spinal Muscular Atrophy.