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ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  723 results

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplicati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740465
BMC Neurology; Nan H, Wu Y et. al.

Jan 9th, 2022 - Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Na...

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Abnormal Bone Morphology in Charcot-Marie-Tooth Disease.
https://doi.org/10.1177/10711007211055460
Foot & Ankle International; Michalski MP, An TW et. al.

Dec 16th, 2021 - Although long suspected, it has yet to be shown whether the foot and ankle deformities of Charcot-Marie-Tooth disease (CMT) are generally associated with abnormalities in osseous shape. Computed tomography (CT) was used to quantify morphologic dif...

Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a...
https://doi.org/10.1002/mgg3.1846
Molecular Genetics & Genomic Medicine; Huang Y, Bi B et. al.

Dec 14th, 2021 - Both Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a...

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Clinicaltrials.gov  4 results

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
https://clinicaltrials.gov/ct2/show/NCT02596191

Nov 9th, 2021 - This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progr...

A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
https://clinicaltrials.gov/ct2/show/NCT03254199

Aug 29th, 2018 - The COMMIT Study will assess the safety and effectiveness of FLX-787 in men and women with Charcot-Marie-Tooth disease (CMT) experiencing muscle cramps. Participants will be asked to take two study products during the course of the study. One of t...

Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
https://clinicaltrials.gov/ct2/show/NCT00142363

Mar 1st, 2006 - The DNA and Cell Bank of Instituts Federatifs de Recherche (IFR) of Neurosciences has been running for the last 15 years at the Institut National de la Santé Et de la Recherche Médicale (INSERM) Unit 679 (former unit 289). Since its creation, this...

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News  13 results

Hospitals Fear Staff Shortage; Longer Wait for Kids' Vax; Half-Dose Moderna Boost?
https://www.medpagetoday.com/infectiousdisease/covid19/94763

Sep 29th, 2021 - Note that some links may require registration or subscription. Hospitals and nursing homes are bracing for worsening staff shortages as state deadlines arrive for healthcare workers to get COVID-19 vaccines. (NPR) Since June, at least 18 health sy...

Theatrics, Hypnosis, and the Roots of Modern Neurology
https://www.medscape.com/viewarticle/947504

Mar 15th, 2021 - "Symptoms, then, are in reality nothing but a cry from suffering organs" – Jean-Martin Charcot Nearly 130 years after his death, Jean-Martin Charcot's name still resonates with modern neurologists. The famed 19th century French physician made myri...

BRIEF-Acceleron To Discontinue Development Of ACE-083
https://www.reuters.com/article/brief-acceleron-to-discontinue-developme/brief-acceleron-to-discontinue-development-of-ace-083-idUSASA00GYD

Mar 9th, 2020 - March 9 (Reuters) - Acceleron Pharma Inc: * ACCELERON ANNOUNCES TOPLINE RESULTS FROM THE PHASE 2 TRIAL OF ACE-083 IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE * ACCELERON PHARMA INC - ACE-083 DID NOT ACHIEVE STATISTICALLY SIGNIFICANT IMPROVEMENTS ...

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/internalmedicine/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light?channel=53
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Patients with Charcot-Marie-Tooth disease describe wide range of care
https://www.mdedge.com/neurology/article/210443/neuromuscular-disorders/patients-charcot-marie-tooth-disease-describe-wide
Jake Remaly

Oct 19th, 2019 - AUSTIN, TEX. – Patients with Charcot-Marie-Tooth disease (CMT) receive a range of supportive care that includes physical therapy, surgery, medications, orthoses, and walking aids, according to patient-reported data presented at the annual meeting.

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Patient Education  7 results see all →