The foot function index may be a promising tool to capture the impact of foot impairments in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a study says. The findings of the study, “Foot Function Index: a promising questionnaire for patients with Charcot-Marie-Tooth disease type 1A,”…
New findings suggest that Schwann cells are able to make the protective layer myelin for multiple nerve cells. This discovery goes against conventional wisdom about how Schwann cells work, and it could have major implications for our understanding of peripheral neurodegenerative diseases, including Charcot-Marie-Tooth disease (CMT). The study with that…
Some $10 million in National Institute of Neurological Disorders and Stroke (NINDS) grants aimed at accelerating clinical trials in rare neurological disorders will support a Charcot-Marie-Tooth (CMT) disease biomarkers project. Funding comes from NINDS’ Clinical Trial Readiness for Rare Neurological and Neuromuscular Diseases program, established to back investigations…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
The key protein mutated in patients with Charcot-Marie-Tooth (CMT) disease type 2Y works to break down cellular complexes via a sort of “hand over hand” mechanism, a study found. The newly identified structure of the p97 protein may help in determining new targets for possible therapies, its researchers added.
Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests. The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study” was published in the journal PLOS One. Charcot-Marie-Tooth (CMT) leads to progressive muscle…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
A new study reports two mutations in the gene C1orf194 that cause Charcot-Marie-Tooth disease (CMT), adding to the body of knowledge about genetic causes of the condition. The study, “Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease,” was published in the journal Brain. More than…
A study in Korean patients found four previously unreported mutations causing Charcot–Marie–Tooth disease type 4C (CMT4C), which were associated with manifestations such as foot deformities, walking difficulties, and slowed nerve conduction. The research, “Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients,” appeared in…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
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