News

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

Newly identified mutations in the SLC12A6 gene associated with several subtypes of Charcot-Marie-Tooth (CMT) disease have been found, according to a study in Japan. The mutations also affected the central nervous system (brain and spinal cord). The findings call for the need to screen for mutations in the SLC12A6 gene…

A never-before-reported mutation in the GJB1 gene was identified in a recent case report as the cause of X-linked Charcot-Marie-Tooth (CMTX1) disease in two brothers — one of whom had more severe symptoms than the other. Both brothers showed elevated levels of a small RNA molecule called miR-206 — known…

Mutations in the MARS gene can cause axonal and intermediate childhood-onset forms of Charcot-Marie-Tooth disease (CMT), according to a study of two unrelated Chinese families. While MARS mutations were reported initially to cause an axonal form of CMT, these findings add to previous studies suggesting a link between such mutations…

Theophylline, a medication used to treat asthma and other respiratory conditions, promoted myelination — the process by which sheaths of myelin, a fatty substance, are produced around nerves to protect them — in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study shows. Treatment with…

People with Charcot-Marie-Tooth disease (CMT) type 2 are likely to experience inefficient sleep with more time spent awake after going to bed, according to a new study. “We can conclude that sleep in Charcot-Marie-Tooth disease is impaired, specifically for those with type 2 of the disease, which is evidenced…

Blood levels of irisin, an exercise-induced muscle hormone, are significantly lower in people with Charcot-Marie-Tooth disease (CMT) and associate with muscle strength and quality, a small study shows. The findings suggest that this protein, previously shown to have protective effects against muscle wasting, may be a useful biomarker to…

A gene therapy designed to reduce the levels of PMP22 — the protein overly produced in Charcot-Marie-Tooth disease type 1A (CMT1A) — significantly lessened functional deficits in a mouse model of the disease, a study shows. The approach, based on an artificial microRNA (miRNA) molecule, was found to significantly…

The ability to walk in children and adolescents with Charcot-Marie-Tooth (CMT) disease is similarly impaired regardless of their type of foot deformity, according to a small study. The study, “Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy,” was published in BMC…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…