Blood plasma levels of the protein neurofilament light chain (NfL)Â 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,…
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 lack of nerve cell damage contrasts with findings in humans with…
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 expectant mothers with CMT be carefully monitored. While outcomes such as miscarriage and newborn health were similar between women…
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.
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 Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
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,…
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 (CMT2D), a study finds. Its investigators suggest that the findings help…
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…
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…
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 coded by ITPR3 — is thought to be needed to maintain the protective myelin sheath, defects in…
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