News

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,…

A group of potential gene modifiers have been found that may explain the reason why patients with Charcot-Marie-Tooth disease type 1A (CMT1A) who share the same genetic mutation experience different symptoms at varying degrees of severity, a study reports. The study, “Modifier Gene Candidates in Charcot-Marie-Tooth…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Scientists discovered a new mutation in the GARS gene in the first reported cases of two African siblings with Charcot-Marie-Tooth disease type 2D (CMT2D). The case report study, “A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease,” was published in…

Two new mutations associated with a mild form of Charcot-Marie-Tooth disease type 4H (CMT4H) have been found in two Spanish siblings, scientists say. Their study, “A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4,” was published in the Journal…

People with Charcot-Marie-Tooth disease (CMT) type 4B1 have earlier onset and faster progression of disease — as well as more common respiratory complications and greater delay in achieving motor milestones — when compared with those with CMT4B2, a study reports. The study, titled “A multicentre retrospective…

Four new mutations in the gene GJB1 have been identified, joining the growing list of mutations that can cause Charcot-Marie-Tooth disease (CMT). The study, titled “New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease,” was published in the Journal of the Peripheral Nervous System. CMT can be caused…

An 11-year-old girl was diagnosed with Charcot-Marie-Tooth (CMT) disease only after the disease-causing mutation was detected by whole-genome sequencing, after being missed by other detection methods, according to a case report. This case highlights how in-depth genetic sequencing technologies might be the most reliable for diagnosing genetic diseases…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…