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…
A specific mutation in a small RNA molecule called miR-149 was found to be linked to both age of onset and severity in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), according to researchers. Their study, “Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease…
Specific genetic sequences are critical for normal expression of Pmp22, the critical gene in Charcot-Marie-Tooth disease type 1A (CMT1A), a new study shows. The study, “Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer,” was published in the journal Human Molecular Genetics. CMT1A is caused by…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
Inhibition of a tumor suppressor enzyme called MST1 could reverse the effects of the genetic mutations that cause Charcot-Marie-Tooth disease type 4J (CMT4J), researchers show in a fruit fly study. The study, “Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown,”…
Researchers in France have found that a new technique to assess muscle electrical activity, called Motor Unit Number Index (MUNIX), correlates with clinical disability in Charcot-Marie-Tooth disease type 1 (CMT1) and can be used to monitor disease progression. The study, “Motor unit number index correlates with disability in Charcot-Marie-Tooth disease,”…
Researchers at University of Michigan developed a new method that can help identify potential targets relevant for normal peripheral nerve activity and Charcot-Marie-Tooth (CMT) disease therapy development. Based on genetic analysis of non-coding regions in genes coupled with experimental cell line testing, the new method revealed the Tubb2b gene as an…
People with disabilities, such as those with Charcot-Marie-Tooth (CMT) disease, are striving to perform work-related activities, such as engaging in job preparation, searching for jobs, having a job, and looking and working for more hours, according to a recent study. These people are also overcoming barriers to employment, like…
Individuals with Charcot-Marie-Tooth disease type 2 (CMT2) have lower muscle strength compared to those who don’t have CMT2. This loss of muscle strengths leads to decreased balance and inability to perform normal tasks. A study with those findings, “Evaluation of muscle strength, balance and functionality of individuals with…
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