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).

Axonal transport is driven by molecular ... and several forms of Charcot–Marie–Tooth disease, the term for hereditary neuropathy. Their idea has an interesting parallel with regard to ...

SORD Deficiency is a hereditary axonal neuropathy caused by mutations in the Sorbitol Dehydrogenase gene, resulting in an inability to metabolize the sugar sorbitol, and accumulation of high ...

or giant axonal neuropathy (extremely kinky hair and substantial mental retardation). Further autosomal recessive hereditary neuropathies with childhood onset include mitochondrial disorders—for ...

Investigations for acquired axonal neuropathy (Table 1) were unremarkable. A year later, his neuropathy had worsened to the point where he required a walker to ambulate. He also developed non-bloody ...

GeneDx’s Hereditary Neuropathy Panel will be available ... today announced sponsored genetic testing for giant axonal neuropathy (GAN) in partnership with GeneDx, Inc., a leader in genomic ...

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.

SORD Deficiency (also called SORD Neuropathy or CMT-SORD) is a debilitating hereditary axonal neuropathy caused by mutations in the Sorbitol Dehydrogenase gene, leading to an inability to ...

The double-blind, placebo-controlled registrational study of patients ages 16 to 55 is ongoing, with another 12 months of data yet to come. SORD, a hereditary axonal neuropathy created by sorbitol ...

About Hereditary Neuropathy Foundation Hereditary Neuropathy Foundation (HNF) is a US non-profit 501(c)3 organization whose mission is to increase awareness and accurate diagnosis of Charcot-Marie ...

At four years old, she was diagnosed with an extremely rare genetic defect called Giant Axonal Neuropathy (GAN). The disease causes nerves to die and muscles to stop working. Hannah can no longer ...