Charcot-Marie-Tooth disease
RSS feedTwo new families with a rare form of CMT disease reported in Brazil
Researchers in Sao Paulo, Brazil, report the clinical and paraclinical observations of two families diagnosed with X-linked Charcot-Marie-Tooth (CMT) disease: mutations in the PKD3 gene, including a new one, were identified in these two families, enabling them to be classified as CMTX6, an ultra-rare subtype of CMT in which only a few patients have been … [Read more]
CMT 4J: heterogeneous clinical pictures where electrophysiology is not always sufficient for diagnosis
Mutations in the FIG4 gene are responsible not only for Charcot-Marie-Tooth (CMT) 4J disease, but also for amyotrophic lateral sclerosis and Parkinson disease. In this article, involving clinicians from the Institut de Myologie, published in November 2023, of the eight patients described, six had pure CMT and two had CMT associated with Parkinson disease; three … [Read more]
Preliminary results from the PREMIER trial do not confirm the efficacy of PXT 3003 in CMT 1A
PXT 3003 is a drug candidate developed by Pharnext. It has already been the subject of two clinical trials, launched in 2010 and 2015, and of an international phase 3 trial between 2021 and 2023, notably in France. Its preliminary results were announced in a press release in December 2023. The ONLS score was reported … [Read more]
When a smartphone app reliably assesses peak cough flow
A study carried out in Spain on 50 patients suffering from Charcot’s disease (n=26), autoimmune myasthenia (n=9) or genetic myopathy (n=15) shows that sound analysis of coughing, via a smartphone application developed by the Hiroshima Institute of Engineering (Japan) : reliably assesses the peak cough flow (PCF) measured with a flowmeter associated with an oronasal … [Read more]
Painful muscle cramps at the forefront in a very rare form of hereditary sensory-motor neuropathy
Okinawa-type neurogenic muscular atrophy (or HMSN-P) is an extremely rare hereditary neuropathy. Japanese researchers have taken a new interest in what is one of the very distinctive features of the disease, namely cramps, which are often inaugural and painful: 16 previously diagnosed HMSN-P patients had their initial cramps re-evaluated, In this disease, which leads after … [Read more]
Poor quality sleep in CMT?
The Italian Charcot-Marie-Tooth registry conducted a study of sleep and sleepiness among more than 250 patients: 56% had poor quality sleep. 23% doze off during the day. these difficulties were correlated with fatigue, anxiety and depression. The authors therefore recommend assessing sleep in people with CMT, as well as related factors such as fatigue and … [Read more]
The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population
Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease: several techniques were used: search for duplication/deletion of the PMP22 gene, CMT panel, whole exome, etc. 68% of patients had genetic confirmation of their disease, demonstrating a good diagnostic yield, CMT1A (duplication of the PMP22 gene) remains the most frequent aetiology, followed … [Read more]
Results of a survey on pregnancy in CMT disease
British team conducted a survey of 92 women with Charcot-Marie-Tooth (CMT) disease to assess their experiences of pregnancy and childbirth (171 in total): the participants completed questionnaires on the development of symptoms during pregnancy and potential obstetric complications encountered. The survey was carried out in a single London hospital, on pregnancies that took place between … [Read more]
Genetic analysis strategy in hereditary neuropathies
French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases. Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be … [Read more]
French experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies
Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the Diagnostic tools – molecular genetics subcommittee of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS). They list : 81 genes involved in CMT (included 26 only suspected for the … [Read more]
