Lindsey Shapiro, PhD,  science writer—

Wearable sensors used in the home effectively captured data on physical function that correlated with measures of disease severity taken in the clinic for adults with Charcot-Marie-Tooth disease (CMT), data show. Such remote monitoring tools can aid in understanding how CMT affects patients in daily life, and may supplement…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to investigational oral therapy NMD670 to treat Charcot-Marie-Tooth disease (CMT). Orphan drug designation is given to therapies designed to prevent, diagnose, or treat rare diseases, defined as one affecting fewer than 200,000 people in the U.S. The…

For Charcot-Marie-Tooth (CMT) disease Awareness Month this September, supporters are taking to social media to put a spotlight on the relatively unknown neuromuscular disease. CMT is a group of diseases affecting the network of nerves throughout the body that are involved in sensation and movement. It is one of…

A particular mutation in the PMP22 gene, called T118M, is a risk factor for developing a mild form of Charcot-Marie-Tooth disease (CMT) — but it doesn’t always cause the rare disorder, according to a new study. A series of experiments in cell cultures revealed possible reasons why T118M leads to…

Mutations in the SerRS gene — which is critical for protein production — were identified as the cause of Charcot-Marie-Tooth disease (CMT) in three families in China, a study reported. Researchers found that two newly-identified SerRS mutations likely acted to disrupt the process by which proteins are produced from…

Too much glycosylation, a protein modification process, may underlie the effects of some mutations in the MPZ gene, the gene responsible for Charcot-Marie-Tooth disease type 1B (CMT1B), a study found. Suggestions this might be the case were supported by findings from a new mouse model of CMT1B, in which a…

Treatment with a protein called alpha-1 antitrypsin (AAT) protects nerve cells and lowers inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. Lab experiments showed that the treatment, derived from human blood (hAAT), may exert its protective effects on nerve cells by preserving…

Piperine — the molecule that gives black pepper its pungent odor — and other chemically similar compounds can enhance cellular processes whose dysfunction are thought to underlie Charcot-Marie-Tooth disease type 2A (CMT2A), a study has found. In their ability to enhance the function of mitochondria — which produce energy…

Treatment with inhibitors of the HDAC6 protein, including the new compound CKD-504, was able to restore proper connections between nerves and muscles and improve movement in zebrafish with low levels of GARS — the gene implicated in Charcot-Marie-Tooth disease type 2D, a study found. The results suggest that HDAC6 blockade may…

A new MME gene mutation was discovered in three members of a large Iranian family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT2), according to a recent case report. The report, “A nonsense mutation in MME gene associates with autosomal recessive late-onset…