Neuromuscular Disease Program

It also provides expertise in the diagnosis of muscular dystrophies, motor neuron disorders such as post­polio syndrome and amyotrophic lateral sclerosis, and various hereditary neuropathies, including Charcot-Marie-Tooth disease.

Under the joint leadership with Marinos Dalakas, MD, who came to Jefferson after serving as Chief of the Neuromuscular Diseases Section at the National Institute of Neurological Disorders and Stroke for 20 years, the program is focused on developing a strong research emphasis on the immune pathogenesis of various neuromuscular disorders and the application of novel immunotherapies. The Program is exploring new antibodies in autoimmune neuropathies, neuromyelitis optica, inflammatory myopathies and stiff-person syndrome in connection with Dr. Dalakas' laboratory at the University of Athens Medical College. It is also exploring the mechanism of painful conditions such as fibromyalgia, with ongoing evidence that a number of patients have small fiber sensory neuropathy.

Various studies are also performed on muscle, nerve and skin biopsies using molecular approaches. Findings have been published in leading journals.

A better understanding of the underlying autoimmune mechanisms of these diseases is expected to lead to the development of specific therapies. The neuromuscular program is planning clinical trials for chronic inflammatory neuropathy, dermatomyositis, and stiff-person syndrome.