This rare genetic disorder may affect fewer than 100 people worldwide. You may experience difficulty walking or numbness in your arms and legs at first, but it can develop into more serious symptoms.

Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN, the gene encoding gigaxonin. We ...

Hereditary axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under the name of Charcot–Marie–Tooth (CMT) disease type 2 (CMT2).

Kieseier and colleagues present a review of the literature on immune-mediated neuropathies, emphasizing the immunopathologic mechanisms underlying these neuropathies. Immune-mediated neuropathies have ...

This review provides a concise overview of the epidemiology, etiology, history, diagnostic criteria, and management of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth (CMT) disease is a group of ...

Biomarkers are generally used as diagnostic and prognostic tools in clinical practice, but are not yet available for neuropathies. Studies now suggest that neural protein levels in serum and ...

Thirty-three patients with liver cirrhosis were investigated clinically and electrophysiologically. Nerve-conduction abnormalities were present in 24 (73%) patients compared with 71% reported in a ...