Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and new treatments in Genetic Neuropathy

Mary M Reilly (1) , Michael Shy (2)

1 National Hospital for Neurol & Neurosurg
2 University of Michigan [Ann Arbor]

The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot-Marie-Tooth disease (CMT), the hereditary sensory and autonomic neuropathies (HSAN) and the distal hereditary motor neuropathies (dHMN). More than 30 causative genes have been described making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has revolutionised our understanding of the peripheral nervous system and allowed the development of rational approaches to therapy. The first therapuetic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies.

Mots clés: NEUROPATHY

Mary M Reilly, Michael Shy. Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and new treatments in Genetic Neuropathy. Journal of Neurology, Neurosurgery and Psychiatry, 2009, 80 (12), pp.1304. ⟨10.1136/jnnp.2008.158295⟩. ⟨hal-00552717⟩