Charcot-Marie-Tooth News

January 15, 2021January 15, 2021

DI-CMT Type B Mouse Model Reveals Features of Muscle Damage

A mouse model of dominant-intermediate Charcot-Marie-Tooth (CMT) disease type B displays motor symptoms that are caused mostly by muscle damage, rather than peripheral nerve cell damage, a study found. While the ... Read more

January 12, 2021January 12, 2021

Pregnancy Can Worsen CMT Symptoms With Outcomes Unaffected, Italian Study Finds

Charcot-Marie-Tooth News

Charcot-Marie-Tooth disease (CMT) does not significantly affect the outcomes of pregnancies but a pregnancy can cause CMT symptoms to worsen, according to a study in Italy, which also recommends that ... Read more

January 5, 2021January 5, 2021

Common Pathway Malfunction Found to Underlie CMT Subtypes 1C, 4J

Charcot-Marie-Tooth News

A common pathway malfunction was found to underlie Charcot–Marie–Tooth (CMT) disease subtypes 1C and 4J, despite different disease-causing mutations, a cell-based study has discovered. Researchers showed that when cells carrying ... Read more

December 22, 2020December 22, 2020

Changes to Nerve-Muscle Junction Tied to Degeneration in CMT2D Mice

Charcot-Marie-Tooth News

Structural changes to neuromuscular junctions — the sites where nerve and muscle cells communicate — were associated with degeneration in a mouse model of Charcot-Marie-Tooth disease type 2 subtype D ... Read more

December 18, 2020December 18, 2020

New Life Quality Measure Will Help Youth Assess CMT Burden

Charcot-Marie-Tooth News

A new health-related quality of life (QOL) outcome measure has been developed and validated for children and adolescents with Charcot-Marie-Tooth disease (CMT) in a longitudinal study. The patient-reported measure was deemed ... Read more

December 11, 2020December 11, 2020

Survey Seeks to Assess Impact of Medications on CMT Symptoms

Charcot-Marie-Tooth News

A group of researchers is inviting adult Charcot-Marie-Tooth disease (CMT) patients who have mobility or dexterity limitations and/or their caregivers to take an online survey regarding their experiences using medicines. ... Read more

December 8, 2020December 8, 2020

ITPR3 Mutations Can Cause Intermediate Form of CMT, Study Says

Charcot-Marie-Tooth News

Mutations in the ITPR3 gene appear to cause an intermediate form of Charcot-Marie-Tooth disease (CMT) that shows axonal degeneration and demyelination, a recent study suggests. While IP3R3 — the protein ... Read more

December 4, 2020December 4, 2020

Japanese Study: New MPZ Gene Variants Tied to Diverse CMT Symptoms, Features

Charcot-Marie-Tooth News

People with Charcot-Marie-Tooth (CMT) and mutations in the MPZ gene have highly variable disease symptoms, according to a recent Japanese study, which found that these patients may be diagnosed with ... Read more

November 26, 2020December 28, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

Charcot-Marie-Tooth News, COVID-19 News

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a ... Read more

November 24, 2020November 24, 2020

Ancora Funding Vanderbilt Research Into Potential CMT Treatments

Charcot-Marie-Tooth News

Ancora Innovation is funding a research project at Vanderbilt University aiming to realize potential new treatments for Charcot-Marie-Tooth disease (CMT), according to a university press release. The research will be led by ... Read more

November 17, 2020November 17, 2020

Drug Screen Finds Dozens of Potential Therapeutic Compounds for CMT2A

Charcot-Marie-Tooth News

AcuraStem has identified 37 compounds that improve nerve cell survival and might help treat Charcot-Marie-Tooth disease type 2A (CMT2A), according to a press release from the CMT Research Foundation. CMT2 accounts ... Read more

November 13, 2020November 14, 2020

Survey: Restricted Physical Activity Affected CMT Patients During COVID-19 Lockdowns

Charcot-Marie-Tooth News, COVID-19 News

As a result of significant reductions in walking and physical therapy, people with Charcot-Marie-Tooth (CMT) disease reported worsening physical skills and pain scores after the COVID-19 lockdowns, a recent survey ... Read more

November 3, 2020November 3, 2020

Functional Surgery Can Improve Walking Ability in People With CMT, Study Finds

Charcot-Marie-Tooth News

Functional surgery can improve walking ability in people with Charcot-Marie-Tooth disease (CMT), and patients are generally satisfied with the outcomes, a study indicates. The study, “Long‐term walking ability and patient ... Read more

October 30, 2020October 30, 2020

CMT Research Foundation to Develop Precision Medicine Approach for Subtypes

Charcot-Marie-Tooth News

The CMT Research Foundation has launched a new research program that will seek to develop a precision medicine approach to treat people with Charcot-Marie-Tooth (CMT) disease, the foundation announced in ... Read more

October 27, 2020November 28, 2020

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

Charcot-Marie-Tooth News

A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in ... Read more