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Outcomes of Charcot-Marie-Tooth Disease Cavovarus Surgical Reconstruction.
Foot Ankle Int
November 2024
Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Background: Charcot-Marie-Tooth (CMT) disease is a progressive inherited neurologic disorder causing muscle weakness and lower extremity deformity. The goal of foot and ankle surgical treatment is to create a stable, plantigrade foot, with the potential elimination of brace-wear for ambulation. The aim of this study was to report baseline CMT patient function and subsequent outcome improvement from surgical treatment, as determined by PROMIS physical function (PF), pain interference (PI), and mental health/depression (D) scores.
View Article and Find Full Text PDFCase report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family.
Front Genet
July 2023
Center for Neurodegenerative Diseases (CEMAND), Department of Medicine, Surgery and Odontology "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
gene encodes the protein Mitofusin 2, involved in essential mitochondrial functions such as fusion, trafficking, turnover, and cellular interactions. We describe a family carrying a novel mutation associated with ALS-frontotemporal dementia (FTD) clinical phenotype in the mother and Charcot-Marie-Tooth disease type 2A (CMT2A) in her son. The mother, a 67-year-old woman, referred to us for a three year-history of mood disturbance and gait impairment, and a more recent hypophonia, dysarthria, dysphagia, and diffuse muscle wasting.
View Article and Find Full Text PDFDaytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
J Neurol
November 2023
SC Malattie Neurologiche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Background: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.
Methods: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls.
Role of Sport Activity on Quality of Life in Charcot-Marie-Tooth 1A Patients.
J Clin Med
November 2022
Nemo Sud Clinical Centre for Neuromuscular Disorders, 98125 Messina, Italy.
The present study aims to investigate the benefits induced by physical activity/practiced sport in Charcot-Marie-Tooth 1A (CMT1A). Patients were divided into sport and no-sport groups according to their sports performance habit. Thirty-one patients were enrolled, of which 14 practiced sports and 17 did not.
View Article and Find Full Text PDFFrequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.
Eur J Neurol
March 2023
Unità di Malattie Neurodegenerative e Metaboliche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Background And Purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated.
Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group.
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