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UR Medicine

Neuromuscular Disease Center

The Neuromuscular Disease Center provides diagnosis and comprehensive treatment of Neuromuscular diseases in both adults and children. Within the Neuromuscular Disease Center, there are several specialty clinics that include the ALS Clinic, the Muscular Dystrophy Association (MDA) Clinic / Neuromuscular Clinic, Neuropathy Clinic, and the Periodic Paralysis, Myotonia, and the Episodic Ataxia Clinic. The Neuromuscular labs include the URMC EMG Lab and the neuropathology lab.

Neuromuscular diseases involve conditions of the nerves and muscles, including:

  • Acquired or hereditary peripheral neuropathies
  • Muscular dystrophies such as:
  • Inclusion body myositis (IBM)
  • Inflammatory myopathy and other myopathies
  • Myasthenia gravis
  • Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig’s disease)
  • Ataxias
  • Periodic paralysis
  • Non-dystrophic myotonias
  • Neuromuscular disorders

Neuromuscular disease diagnostic procedures include:

Our Providers

 

Neuromuscular Disease Unit

Within the Neuromuscular Disease Center, there are several specialty clinics:

Research

Research in the Neuromuscular Disease Center includes therapeutic trials, pathophysiology, animal and cellular models of disease, molecular genetic alterations, pathomechanisms and identification of new treatments of neuromuscular diseases. Our goals are to understand the molecular pathology and its relationship to the metabolic alterations that cause the manifestations of each disease and to develop more rational approaches to their treatment.

Scope of Research: Therapeutic Trials, Pathophysiology, Animal and Cellular Models of Disease, Molecular Genetic Alterations, Pathomechanisms and Identification of New Treatments of Neuromuscular Diseases

Goals are to understand the molecular pathology and its relationship to the metabolic alterations that cause the manifestations of each disease and to develop more rational approaches to their treatment.

Our Locations

Strong Memorial Hospital
601 Elmwood Avenue
Rochester, NY 14642
Directions to Strong Memorial Hospital

EMG Lab
919 Westfall Road
Building C, Suite 220
Rochester, NY 14618
Directions to Westfall Road Clinic

  • Therapeutic trials in Myotonic Dystrophy, Myotonic Dystrophy (Type 1 and Type 2), Facioscapulohumeral Dystrophy, Inclusion Body Myositis, Myasthenia Gravis, Duchenne Dystrophy, Limb Girdle Muscular Dystrophies, Non-Dystrophic Myotonic disorders, Periodic Paralysis, Charcot-Marie-Tooth disease and Amyotrophic Lateral Sclerosis.
  • Clinical pathophysiology of: a) myotonia; b) muscle wasting in Myotonic Dystrophy (Types 1 and 2) and Facioscapulohumeral Muscular dystrophy; c) corticosteroid beneficial and toxic effects in Duchenne dystrophy; d) cognitive-personality changes and sleep alterations in Myotonic Dystrophy (Types 1 and 2); e) muscle pain in Myotonic Dystrophy (Types 1 and 2) and Facioscapulohumeral muscular Dystrophy; f) Small Fiber Neuropathies; and g) Charcot-Marie-Tooth disease.
  • Animal and Cellular Models of: a) Myotonic dystrophy Type 1; b) oculopharyngeal muscular dystrophy; and c) in development is animal model of myotonic dystrophy Type 2.
  • Pathomechanisms and Identification of treatments for: a) myotonic dystrophy type 1 using cell culture systems to screen for molecular alterations that disappear with specific drugs in the media; b) myotonic dystrophy type 1 and Facioscapulohumeral muscular dystrophy using gene chip studies of gene expression in muscle biopsy specimens; and c) myotonic dystrophy type 1 and oculopharyngeal muscular dystrophy using mouse models of these disorders to examine alterations in specific target tissues (the characteristic muscles involved; brain; heart; lens).
  • Electrodiagnostic and histologic features and treatment outcome of various neuropathies, particularly Charcot-Marie-Tooth disease, selected small fiber polyneuropathies, acute and chronic inflammatory demyelinative polyneuropathy, and other hereditary polyneuropathies.

Additional Resources