News

Two brothers with X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), who carried newly identified mutations in the PRPS1 gene, experienced temporary but recurrent symptoms of muscle weakness after taking ill with fever, a case study notes. According…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

In order to advance research to improve medical treatment and care for those living with Inherited Neuropathies (IN), such as Charcot-Marie-Tooth (CMT), the Hereditary Neuropathy Foundation (HNF) is relaunching a more dynamic and user-friendly online survey. The HNF will host a Patient-Centered CMT Behavioral Health Summit on…

Implanting stem-derived Schwann-like cells into mice with Charcot-Marie-Tooth type 1A improved neuron function, leading to better motor activity and nerve regeneration, according to new research from South Korea. The study, “Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of…

Charcot-Marie-Tooth disease type X (CMTX) may increase the risk of developing multiple sclerosis (MS), the most common central nervous system inflammatory demyelinating disease, according to data from a Greek study. The study, “X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association” was published in the Journal…

Patient stories are a central theme for the events organized by the Charcot-Marie-Tooth Association (CMTA), Hereditary Neuropathy Foundation (HNF) and others this September as part of the 2018 CMT Awareness Month. A degenerative neuromuscular condition, CMT, affects one in every 2,500 people. It has no known cure. The…

A genetic study in fruit flies has found a new link between Charcot-Marie-Tooth (CMT) disease and amyotrophic lateral sclerosis (ALS). Conducted by researchers from the Kyoto Institute of Technology and collaborators at the Kyoto Prefectural University of Medicine in Japan, the study suggests that long-noncoding RNA molecules are…

Differences in high-resolution nerve ultrasound (HRUS) results could help distinguish patients with Charcot-Marie-Tooth disease type 1A (CMT1A) from those with other disease types characterized by the loss of myelin, a study reports. The study, “Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs,”…

Children and adolescents with Charcot-Marie-Tooth disease (CMT) fall approximately 33 times more than their peers with normal development, sustaining more injuries when they fall, a study reports. The study, “Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study,” was published in the journal BMJ. CMT patients develop…

The fat fraction of the calf muscle is a reliable biomarker for disease progression and treatment response in Charcot-Marie-Tooth disease type 1A (CMT1A), according to a recent study. The study, “Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A,”…