Author Archives: Iqra Mumal, MSc

Muscle wasting and nerve conduction deficits are not associated with alterations in health-related quality of life (HRQoL) and hand function in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a new study suggests. Still, the findings also indicated the importance of assessing changes in hand function as early as possible…

A mutation in the SEPT9 gene — which provides instructions for making the septin-9 protein that is involved in many cell functions, including cell division and movement — can lead to the development of Charcot-Marie-Tooth disease, according to a new case report. Titled “Identification of a rare…

The density of nerve fibers found within the epidermis — the outermost layer of the skin — can be used to evaluate outcomes in clinical trials involving patients with Charcot-Marie-Tooth type 1A (CMT1A), a new study shows. The study, “Intraepidermal nerve fiber density as biomarker in Charcot-Marie-Tooth disease…

X-Linked Charcot-Marie-Tooth Type 1 (CMTX1) should be considered in the differential diagnosis of women experiencing recurring stroke-like symptoms, such as slurred speech and limb weakness, and showing abnormal findings in brain magnetic resonance imaging (MRI) scans, according to a case report. The study, “Recurrent Stroke-Like…

Embelin, a small molecule, rescues hallmark features of Charcot-Marie-Tooth (CMT) disease by stopping a mutant protein from entering the cell’s nucleus, a study in a fly model of the disease showed. Titled “Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy,” the study was published…

Implanting stem-derived Schwann-like cells into mice with Charcot-Marie-Tooth type 1A improved neuron function, leading to better motor activity and nerve regeneration, according to new research from South Korea. The study, “Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of…

Children and adolescents with Charcot-Marie-Tooth disease (CMT) fall approximately 33 times more than their peers with normal development, sustaining more injuries when they fall, a study reports. The study, “Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study,” was published in the journal BMJ. CMT patients develop…

Use of orthoses such as braces or other special devices can help improve the gait and balance of patients with Charcot-Marie-Tooth disease, but patients don’t always follow recommendations for their use, a review study has found. The study, “The Role of Orthotic Service in Modern Rehabilitation of Patients…

The levels of two proteins — PFN2 and GAMT — may serve as potential biomarkers for monitoring disease activity and progression in patients with Charcot-Marie-Tooth disease type 2 (CMT2), a study suggests. The study, “PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease,” was published in…

Treatment with the chemotherapy drug vincristine can lead to severe neuropathy (nerve disease) in patients with an underlying mutation for Charcot-Marie-Tooth disease type 4, according to a new case report from California. The study, “Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report…