News

January 15, 2021January 15, 2021

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

News

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 ... Read more

January 12, 2021January 12, 2021

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

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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 ... Read more

January 8, 2021January 8, 2021

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

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The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD ... Read more

January 5, 2021January 5, 2021

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

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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 ... Read more

December 22, 2020December 22, 2020

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

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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 ... Read more

December 18, 2020December 18, 2020

New Life Quality Measure Will Help Youth Assess CMT Burden

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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 ... Read more

December 11, 2020December 11, 2020

Survey Seeks to Assess Impact of Medications on CMT Symptoms

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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 ... Read more

December 8, 2020December 8, 2020

ITPR3 Mutations Can Cause Intermediate Form of CMT, Study Says

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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 ... Read more

December 4, 2020December 4, 2020

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

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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 ... Read more

December 1, 2020November 30, 2020

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

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To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders ... Read more