Diagnosis and new treatments in genetic neuropathies

MM Reilly, ME Shy - Journal of Neurology, Neurosurgery & Psychiatry, 2009 - jnnp.bmj.com
MM Reilly, ME Shy
Journal of Neurology, Neurosurgery & Psychiatry, 2009jnnp.bmj.com
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 and the distal hereditary motor neuropathies. 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 …
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 and the distal hereditary motor neuropathies. 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 therapeutic 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.
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