News

NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

NfL Shows Potential as CMT Biomarker, But More Work Needed

Blood plasma levels of the protein neurofilament light chain (NfL) are elevated in Charcot-Marie-Tooth disease (CMT) patients and correlate somewhat with disease severity, a recent study reports. These findings suggest that the protein may serve as a clinical biomarker for identifying CMT and tracking disease progression,…

New CMT-causing Mutation in MFN2 Gene Found in Japan

A never-before-reported mutation in the gene MFN2 was found to cause a severe form of Charcot-Marie-Tooth disease (CMT). Scientists in Japan described the case in “An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness,” published in the journal Internal Medicine.

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

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 different CMT-linked mutations were treated with a certain single small molecule,…

New Life Quality Measure Will Help Youth Assess CMT Burden

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 sensitive and may be used to assess disease burden in clinical settings and remotely, as…

Survey Seeks to Assess Impact of Medications on CMT Symptoms

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. The experiences that people living with CMT have had with medications may help researchers better understand treatment safety…