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).

GeneDx’s Hereditary Neuropathy Panel will be available free of charge to individuals at risk for or suspected of having GAN Taysha will collaborate with Hereditary Neuropathy Foundation and ...

Neuropathies are nervous system disorders that interfere with normal nerve function, whether motor or sensory. They affect the peripheral nerves, meaning the nerves beyond the brain and spinal cord.

Nerve damage, also known as neuropathy, can have many causes. In some cases, neuropathy is an inherited condition. Hereditary neuropathies include a group of inherited conditions that affect the ...

A research team has successfully demonstrated the world's first gene-editing treatment for Leber's hereditary optic neuropathy (LHON). The study was conducted in collaboration with the Seoul National ...

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 ...

In recent years, advances in molecular genetics have impacted the understanding and the classification of hereditary retinal and optic nerve disease perhaps more than any other group of eye diseases.

We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com. A long-term phase 4 trial investigating Raxone for the ...

Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding transthyretin (TTR) that induce transthyretin misfolding and systemic deposition of amyloid ...

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 ...