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Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

The Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as Charcot-Marie-Tooth (CMT) disease. Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized regulatory…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 Mutation-A Disease Spectrum: Report of Case Series,” was published in the journal Frontiers in Neurology. CMTX1, also called X-linked CMT,…

X-Linked Charcot-Marie-Tooth Type 1 (CMTX1) should be considered in the differential diagnosis of women experiencing recurring stroke-like symptoms, such as slurred speech and limb weakness, and showing abnormal findings in brain magnetic resonance imaging (MRI) scans, according to a case report. The study, “Recurrent Stroke-Like…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

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…