Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…

Mild sensory neuropathy was found in a group of Charcot-Marie-Tooth disease type 1 subtype B (CMT1B) patients with myelin protein zero (MPZ) gene mutations that cause insufficient levels of MPZ protein, a study shows. These results are in line with those…

Three people from two unrelated families were found to have Charcot-Marie-Tooth disease type 2Z (CMT2Z) caused by the same MORC2 mutation, called p.Ala406Val, which was linked to severe neuropathy, a case study reported.  One patient’s condition also worsened following treatment with vinblastine…

A new genetic mutation in the MCM3AP gene was identified and associated with three cases of Charcot-Marie-Tooth (CMT) disease in one family, who also showed symptoms of multiple sclerosis (MS), according to a case study. This is the first report of a recessive form of CMT — meaning…

Have you ever had a headache so severe that all you can do is stay in bed? The kind in which every sound and bright light sends ripples of pain through your head? I have. Many times. I finally decided to speak to my doctor about these horrific headaches. They…

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…

A thorough physical examination and genetic testing to rule out Charcot-Marie-Tooth (CMT) disease prior to chemotherapy is an important step to prevent further damage to nerve cells, Kern Medical Center researchers suggest. This conclusion was supported by a case report of a 56-year-old patient with a family history of…

Mutations on the sequence of the SACS gene can lead to sensorimotor impairment similar to that observed in patients with Charcot-Marie-Tooth disease (CMT), researchers contend in a case report study published at Muscular Disorders. More than 20 genes have been associated with the development of different forms of CMT.

Routine exercise done at a patient’s own pace improves strength and lessens disability in patients with Charcot-Marie-Tooth (CMT) disease, reports a Canadian study that compared patients adhering to a “self-directed” exercise program with those who do not exercise. The study, “Effects of Self-Selected Exercise on Strength in Charcot–Marie–Tooth Disease…