Falls and near falls are frequent in Charcot-Marie-Tooth disease patients and are the consequence of muscle and joint weakness, according to a patient self-reported questionnaire study. The report “Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey” was published in the journal Physiotherapy Research…
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Diagnosis of Charcot-Marie-Tooth disease and other neuropathies is essential to prevent severe, life-threatening complications that may arise from the use of chemotherapy drugs, a study published in the journal Acta Oncologica highlights. Some compounds that are commonly used to fight cancers can induce chemotherapy-induced peripheral neuropathy (CIPN). This is…
The proteins NME3 and CSNK1G3 can help increase production of proteins lacking in genetic diseases with an underlying nonsense mutation – such as Charcot-Marie-Tooth type 2 disease – leading to a reduction in symptoms, a new study shows. The study “Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic…
Korean researchers have conducted a comprehensive analysis of the genetic and clinical features of GJB1 gene mutations in patients with X-linked Charcot-Marie-Tooth type 1 (CMTX1). The results of the study were published in the Journal of the Peripheral Nervous System. More than 400 mutations in the GJB1 gene have been…
The heartwarming story of students from three Massachusetts high schools banding together to help raise money to find a cure for the extremely rare neuropathy Charcot Marie Tooth, Type 4J (CMT4J) was featured in the Boston Globe recently. Students from Hamilton-Wenham, Ipswich, and Danvers high schools…
Researchers have linked a mutation on the MFN2 gene to mild, late-onset development of Charcot–Marie–Tooth disease type 2A (CMT2A). Two cases of adult-onset CMT2A were reported in a study, “Charcot–Marie–Tooth disease type 2A with an autosomal recessive inheritance: the first report of an adult-onset disease” that…
The use of antisense oligonucleotides (ASOs) to target the PMP22 gene was found to reverse several features of Charcot-Marie-Tooth disease (CMT) in mice, according to the results of a preclinical study. ASOs are single-strand synthetic nucleic acid molecules that bind to a specific messenger RNA (mRNA) sequence, promoting its degradation so…
Researchers identified a novel mutation responsible for a rare form of Charcot-Marie-Tooth disease in a 13-year-old Chinese patient. The case report, “A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease,” appeared in the journal Neuromuscular Disorders. Mutations (errors) in the gene coding for the…
Intermediate analyses were positive for a Phase 3 clinical trial evaluating Pharnext’s PXT3003 as a possible treatment for people with Charcot-Marie-Tooth disease type 1A (CMT1A). Results of the two planned analyses — conducted by Philippe Lehert, a member of the study’s Independent Data Safety Monitoring Board — confirmed the…
Researchers have found that children affected by Charcot-Marie-Tooth disease type 1A (CMT1A) have lower function, strength, and sensation in the upper limbs and hands. The study, titled “Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency…