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 (CIDP, GBS, other)
• Amyotrophic Lateral Sclerosis (ALS) and other motor neuron diseases
• Becker Muscular Dystrophy (BMD)
• Charcot Marie Tooth (CMT) and other inherited neuropathies
• Duchenne Muscular Dystrophy (DMD)
• Facioscapulohumeral Muscular Dystrophy (FSHD)
• Muscular Dystrophy (MD)
• Myasthenia Gravis and other autoimmune neuromuscular disorders
• Myotonic Dystrophy (DM)
• Spinal Muscular Atrophy (SMA)

Our neuromuscular laboratories include the 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.

Our team of experts at the Neuromuscular Disease Center 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 the leading academic health system in Upstate New York, our clinicians are also active in research, serving as Principal Investigators for national and international multi-center trials. University of Rochester Medicine 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), Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy (FSHD), and Spinal Muscular Atrophy.