News

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

The co-occurrence of mutations that affect more than one gene may explain more severe cases of Charcot-Marie-Tooth (CMT) within members of the same family, a small Chinese study says. According to the researchers, this should be considered whenever CMT patients within the same family show differing symptoms. The report…

In a study spanning 15 years, South Korean researchers investigated the clinical, genetic, and imaging features of Charcot-Marie-Tooth (CMT) disease in more than 1,100 families with this group of peripheral nervous system disorders who underwent gene sequencing focused on the NEFL gene. The team identified 10 mutations in…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

An NEFH gene mutation was identified in three unrelated Japanese families with Charcot-Marie-Tooth (CMT) disease and one family with spinal muscular atrophy (SMA), suggesting they share a common ancestor, a recent study proposes.  The study marks the first case of CMT type…

The number of people in the U.K. known to have Charcot-Marie-Tooth disease (CMT) or another neuromuscular disease (NMD) rose by 63% between 2000 and 2019, a study involving almost 13 million people found. Researchers also observed that while lifetime prevalence — the part of a population given a diagnosis at…

Older adults suspected of having Charcot-Marie-Tooth (CMT) disease, particularly those over age 60 with sensory nerve issues like numb hands or feet, may actually have hereditary transthyretin (ATTRv) amyloidosis, a Japanese study suggests. According to its researchers, these patients should undergo genetic testing for mutations in the TTR gene, the cause…

New mutations in the FGD4 gene associated with Charcot-Marie-Tooth disease type 4H (CMT4H) have been identified in a 12-year-old boy in China. The study, “Novel FGD4 Variants and Literature Review of Charcot-Marie-Tooth Disease Type 4H,” was published…

Treatment with CKD504, an inhibitor of the protein HDAC6, enhanced the activity of spinal cord neurons genetically engineered to harbor mutations in the GARS1 gene, a study found. Mutations in GARS1, which disrupt nerve signals, cause Charcot-Marie-Tooth disease type 2D (CMT2D). Together with other benefits, these findings highlight CKD504 as…

Farnesol, a component of essential oils of various plants, increased the amount of myelin — a fatty layer that covers and protects nerves — made by lab-grown cells and in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. Researchers also observed that farnesol…