Charcot-Marie-Tooth disease
RSS feedPainful 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]
