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February 14, 2020February 14, 2020

Recurrent Stroke-Like Symptoms, Abnormal Brain MRI Findings May Signal CMTX1 in Women, Case Report Says

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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 ... Read more

February 11, 2020February 11, 2020

FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar

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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 ... Read more

February 11, 2020February 11, 2020

New Gene Testing Tools Like WES Help in Diagnosing Rarer CMT Subtypes, Case Series Reports

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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, ... Read more

February 7, 2020February 7, 2020

With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

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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 ... Read more

February 7, 2020February 7, 2020

From Care Centers to Research Awards and Summer Camp, MDA Leads in Helping Others

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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 ... Read more

February 4, 2020February 4, 2020

New GJB1 Mutation Cause of X-linked CMT in Chinese Family, Study Finds

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Researchers identified a mutation in the GJB1 gene as the genetic cause of X-linked Charcot-Mariee-Tooth (CMTX) disease in a large Chinese family. The study highlights the importance of electromyography (EMG) ... Read more

January 31, 2020January 31, 2020

Some Patients with CMTX Show Cognitive Deficits, Study Suggests

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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 ... Read more

January 28, 2020January 28, 2020

Fat in Legs, Thighs, Could Be Useful Biomarker of CMT1A Severity, Research Suggests

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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 ... Read more

January 24, 2020January 24, 2020

Tendon Transfer Surgery May Minimize CMT-related Foot Drop, Study Suggests

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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 ... Read more

January 21, 2020January 22, 2020

HNF’s ‘Movement is Medicine’ Summit Unites and Encourages All with CMT

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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 ... Read more

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