Molecular simulations of the effects of specific mutations in the structure of mitofusin 2 (MFN2) — the key protein altered in Charcot-Marie-Tooth disease type 2A (CMT2A) — may predict the disease’s severity, a recent study shows. The study, “Molecular modelling of mitofusin 2 for a prediction for…
The fat fraction of the calf muscle is a reliable biomarker for disease progression and treatment response in Charcot-Marie-Tooth disease type 1A (CMT1A), according to a recent study. The study, “Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A,”…
A nerve conduction test may help to diagnose Charcot-Marie-Tooth disease type X (CMTX) patients with neurologic episodes more common to diseases of the central nervous system. The study, “The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits,” was published in the journal…
A cochlear implant — a complex electric device that partially restores hearing — is a viable option to manage hearing loss associated with Charcot-Marie-Tooth (CMT) disease, according to a case report. The report, “Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature,” was…
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