News

A measure of the distribution of demyelination — myelin loss — may improve the diagnosis of demyelinating Charcot-Marie-Tooth disease (CMT) and better distinguish it from a related rare disease, a study in Japan found. Specifically, the compound muscle action potential (CMAP) duration ratio was significantly lower in people with CMT…

Electrical stimulation reduced toxic PMP22 protein clumping and promoted myelin-making activity in a cell model of Charcot-Marie-Tooth disease type 1A (CMT1A), a new study reports. “We expect that the findings … will play a significant role in the potential clinical translation of an electroceutical [electricity-based] treatment for CMT1A disease,”…

Practicing sports may enhance life quality and lessen neuropathic pain in people with Charcot-Marie-Tooth 1A (CMT1A), according to a study conducted in Italy. Patients performing sports regularly reported significantly better general health, social function, and mental health. “These results encourage the prescription of…

When Kenneth Raymond was diagnosed with Charcot-Marie-Tooth (CMT) disease subtype 1A more than 20 years ago, there was little information about the disease that a layman could read and understand. So he set out to remedy that. In 2020, Raymond launched a website called the Cryptid Sloth (now known…

Inherited variants in the PSAT1 gene caused Charcot-Marie-Tooth (CMT) disease in two adolescents, as detailed in a case study and reportedly for a first time. These cases are unusual, given that PSAT1 variants are known to cause severe abnormalities in the central nervous system (CNS), or the brain and…

A novel mutation in the GJB1 gene was found to cause X-linked Charcot-Marie-Tooth disease (CMT) in a new study. “Our results expand the spectrum of mutations in GJB1 known to be associated with [X-linked CMT] and contribute to the diagnosis of CMT and clinical genetic counseling,” the researchers wrote. The…

The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Research Foundation (CMTRF) have awarded a joint research grant that will examine cellular changes in Charcot-Marie-Tooth (CMT) disease with aberrant myelin. The research team led by Alessandra Bolino, Ph.D., at San Raffaele Hospital, Italy received a $263,450 grant for…

A new report describes the case of a 63-year-old man diagnosed with an atypical, severe form of Charcot-Marie-Tooth disease type 2 (CMT2), with overlapping symptoms of the rarer CMT type 4. Genetic testing showed the man had the subtype CMT2K, caused by mutations in the GDAP1 gene, but with…

A rare mutation in the SOD1 gene helped doctors to diagnose a woman with Charcot-Marie-Tooth (CMT) disease, a study reports. Although SOD1 mutations are commonly associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS), clinical assessments confirmed a CMT diagnosis. Researchers hoped this report would raise awareness…

Novel parameters for MRI scans that measure the degree of muscle fat in specific regions of the legs showed a positive correlation with clinical indicators of disease severity and disability in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a study reports. The findings suggest that these new MRI parameters…