News

Researchers found that HERC1 protein may be important for the production of myelin, the protective layer in peripheral nerves. This discovery, from a mouse study, increases scientific knowledge about the processes involved in several demyelinating disorders, including Charcot-Marie-Tooth (CMT) disease. The study, “HERC1 Ubiquitin Ligase Is Required…

Researchers have found that footwear that provides inadequate support to users negatively affects the gait and balance of children and adolescents with Charcot-Marie-Tooth (CMT) disease. CMT is characterized by progressive damage to peripheral nerve cells, particularly affecting the feet and ankles. Children with this disease often experience gait difficulties due…

True Reply recently committed to donating up to $200,000 from its cryptocurrency sale to support the Hereditary Neuropathy Foundation (HNF) and the Charcot-Marie-Tooth (CMT) disease community. The donation is part of an ongoing collaboration between the tech startup and the nonprofit foundation aimed at enhancing patient-focused…

Researchers have linked a newly identified mutation affecting the HSPB1 gene to a rare subtype of Charcot-Marie-Tooth disease (CMT) in a recent case report from India. The case report, “Charcot Marie Tooth disease 2F and a novel mutation from India,” was described by a team at the…

The online community GeneFo will hold a free webinar this month to provide those living with Charcot-Marie-Tooth (CMT) disease with updated insights into exercise and physical therapy strategies to help manage symptoms. The event, titled “Exercise and Physical Therapy Strategies for CMT Symptoms,” will be held March 29…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

One in every 5,943 Koreans has deletions in material that is part of the PMP22 gene linked to Charcot-Marie-Tooth disease type 1A (CMT1A), researchers estimate. A team led by scientists at the Samsung Medical Center in South Korea, in collaboration with LabGenomics, conducted a genetic study of…

Researchers have discovered that a molecular mechanism involving critical proteins for nervous system development may help explain targeted neuromuscular defects in Charcot-Marie-Tooth disease type 2D (CMT2D). The study titled, “Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy,” appeared in the journal Frontiers in…

Researchers have discovered a cellular “switch” that regulates the production of the correct amount of fat molecules needed for cells to create the myelin layer that protects neurons. The switch was found to rely on the fatty acid synthase enzyme, or FASN, which, when absent or inactive, leads to defective…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…