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January 14, 2020January 14, 2020

Common Mutations Linked to CMT in Southern Italy Highlighted in Study

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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 ... Read more

January 10, 2020January 10, 2020

Case Report Describes White Matter Lesions, New Mutations In CMTX

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Central nervous system (CNS) dysfunction, manifesting as reversible posterior leukoencephalopathy , was observed in three people with X-linked Charcot-Marie-Tooth (CMTX) and described in a recent case report. The case ... Read more

January 7, 2020January 7, 2020

First Portuguese Family Identified With CMT Type 2 Caused by NEFL Genetic Mutations

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Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the NEFL gene — with family members showing different symptoms. The case ... Read more

January 3, 2020January 3, 2020

Researchers Discover Novel Mutation in EGR2 Gene That Causes Severe CMT Type 3

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A newly discovered mutation in the gene EGR2 causes a severe form of Charcot-Marie-Tooth disease type 3 (CMT3), according to a case report of a 56-year-old patient. The report, titled ... Read more

December 20, 2019December 20, 2019

CMTA Donors Pledge $100K for Matching Donations to CMT1A Research

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With a $100,000 match pledge to CMT1A research, longtime Charcot-Marie-Tooth Association (CMTA) supporters Seth and Missy Warfield have issued a challenge to other members of the disease community. The ... Read more

December 17, 2019December 17, 2019

Intermediate CMT Rates are Higher in Southeast China, with Later Onset for Type 1A, Study Suggests

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Charcot-Marie-Tooth disease (CMT) patients from southeast China have higher rates of intermediate CMT, and patients with CMT type 1A seem to have later age of onset, when compared with ... Read more

December 10, 2019December 10, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 6, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

December 3, 2019

Eating for Mitochondrial Health for CMT Patients: A Nutritionist’s View

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I recently caught up with my friend, Estela Lugo, who is an inspiring professional and mom living in New York City as well as a thriver living with Charcot-Marie-Tooth ... Read more

November 26, 2019November 26, 2019

Newly Identified CMT Type 1 Mutations Linked to Milder Disease, Clinical Variability, Study Reports

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Two new mutations causing Charcot-Marie-Tooth disease type 1 (CMT1) were identified in the gene PMP2, and associated with variable clinical severity, including slow progression of disease and mild symptoms, ... Read more

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