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).

Charcot-Marie-Tooth (CMT) disease is a group of hereditary sensory and motor neuropathies resulting from demyelination, axonal dysfunction, or both. Peripheral nervous system maintains its ...

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 ... Genetic testing for inherited neuropathy found a pathogenic variant consistent with hereditary transthyretin amyloidosis.

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 ...

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 ...

Rare hereditary ganglionopathies (hereditary ... fibers — a feature that may help distinguish neuronopathy from axonal neuropathy. (Once the cell body is dead, axons cannot regenerate.) ...

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 ...

Under the partnership, Taysha will sponsor the inclusion of a genetic marker to test for GAN in the GeneDx hereditary neuropathy panel free of charge to individuals at risk for or suspected of having ...