New genetic technologies like whole-exome sequencing can be used to more quickly diagnose specific subtypes of Charcot-Marie-Tooth disease (CMT), helping patients avoid unnecessary treatments, a recent case series reports. The study, “Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes,” was…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
With about $18 million expected to be awarded in 2020 in grants supporting research across neuromuscular diseases, the Muscular Dystrophy Association (MDA) continues to be a leader in efforts to better treat and otherwise ease life for those touched by Charcot-Marie-Tooth disease as well as muscular dystrophy,…
Researchers identified a mutation in the GJB1 gene as the genetic cause of X-linked Charcot-Marie-Tooth (CMTX) disease in a large Chinese family. The study highlights the importance of electromyography (EMG) for family members who have no symptoms but may have disease-related muscle or nerve problems that would…
Some patients with Charcot-Marie-Tooth Disease type X (CMTX) exhibit cognitive deficits, such as difficulties with executive function and reading, a recent study shows. The study, “Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease,” was published in the Journal of the International Neuropsychological Society. CMTX, also…
The amount of fat in leg and thigh muscles measured on magnetic resonance imaging (MRI) scans correlates with disease severity and disability in people with Charcot-Marie-Tooth (CMT) type 1A, a small study suggests. The researchers said the amounts of fat could be a useful biomarker for determining the effects…
Foot drop in Charcot-Marie-Tooth disease may be corrected by transferring the end part of specific leg muscles to the midfoot region, researchers report. The study, titled “Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation,” was published in Foot &…
Allison Moore remembers how doctors advised her to be careful and avoid physical activity after diagnosing her with Charcot-Marie-Tooth (CMT) disease 30 years ago. The organization Moore founded as a result of her diagnosis, the Hereditary Neuropathy Foundation…
Pharnext’s oral experimental treatment PXT3003 was found to be safe and effective for patients with Charcot-Marie-Tooth type 1A (CMT1A), improving clinical outcomes and stabilizing disease progression over the course of two years of treatment, according to data from a Phase 3 trial and its open-label extension study.
Charcot-Marie-Tooth disease type 1A (CMT1A) caused by a duplication in the DNA sequence of the PMP22 gene was the most common form of this disease found in a large group of patients in southern Italy, a study reports. This finding supports suggestions that disease-causing mutations in…
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