☆ 4.5 Article

Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot-Marie-Tooth disease: a real-practice retrospective study

NEUROLOGICAL SCIENCES (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Clinical Neurology

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H

Lara El-Bazzal et al.

Summary: Charcot-Marie-Tooth (CMT) disease is a common inherited neurological disorder caused by mutations in over 100 genes. A study found that mutations in the FGD4 gene, which encodes FRABIN, can lead to aberrant myelination in the peripheral nervous system. The loss of FRABIN affects the NRG1/ERBB2/3 signaling pathway and impairs endocytic trafficking, contributing to myelination defects.

BRAIN (2023)

添加到收藏夹

Article Clinical Neurology

The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease

Stefano Tozza et al.

Summary: The perception of disturbances that mostly impact on CMT1A patients' daily life changes over the lifetime and with degree of disability, with weakness in lower limbs being the most important disturbance and weakness in upper limbs having the lowest impact.

NEUROLOGICAL SCIENCES (2022)

添加到收藏夹

Article Endocrinology & Metabolism

Irisin Serum Levels and Skeletal Muscle Assessment in a Cohort of Charcot-Marie-Tooth Patients

Graziana Colaianni et al.

Summary: This study found that CMT patients have lower levels of irisin compared to healthy individuals. Among CMT patients, women have higher levels of irisin than men, despite men having higher skeletal muscle mass. These findings suggest that irisin may be associated with muscle mass and strength loss, as well as bone loss, in CMT patients.

FRONTIERS IN ENDOCRINOLOGY (2022)

添加到收藏夹

Article Health Care Sciences & Services

A Telerehabilitation Approach to Chronic Facial Paralysis in the COVID-19 Pandemic Scenario: What Role for Electromyography Assessment?

Alessandro de Sire et al.

Summary: This study described a case report of using short-wave diathermy, neuromuscular electrical stimulation, and facial proprioceptive neuromuscular facilitation rehabilitation in a patient with unrecovered facial palsy during the COVID-19 pandemic. The results showed that telerehabilitation follow-up plays a significant role in the management of patients with facial palsy.

JOURNAL OF PERSONALIZED MEDICINE (2022)

添加到收藏夹

Article Medicine, General & Internal

Role of Sport Activity on Quality of Life in Charcot-Marie-Tooth 1A Patients

Costanza Pazzaglia et al.

Summary: The present study investigates the benefits of physical activity/practiced sport in CMT1A patients. The results show that patients who engage in sports have better physical quality of life and experience less neuropathic pain compared to those who do not participate in sports.

JOURNAL OF CLINICAL MEDICINE (2022)

添加到收藏夹

Article Neurosciences

Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: An evaluation using comprehensive gait analysis techniques

Sylvia Ounpuu et al.

Summary: This study identifies different ankle kinematic patterns during stance and swing in patients with CMT1. The ankle phenotypes observed reflect the involvement of both dorsiflexor/plantarflexor weakness and plantarflexor contracture, suggesting the necessity of tailored treatment approaches. Comprehensive gait analysis can help differentiate between various ankle phenotypes and guide individualized treatment to improve gait function.

GAIT & POSTURE (2022)

添加到收藏夹

Article Clinical Neurology

Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study

Laura Mori et al.

Summary: In this study, researchers investigated the impact of hand impairment on the perceived quality of life of CMT patients, and whether the DASH scale could be useful in assessing upper limb function in CMT patients. The results show that SF36 is useful in recognizing the impact of upper limb disability in these subjects, suggesting its use even in the remote monitoring of physical functioning.

FRONTIERS IN NEUROLOGY (2022)

添加到收藏夹

Article Clinical Neurology

Satisfaction with ankle foot orthoses in individuals withCharcot-Marie-Tooth disease

Riccardo Zuccarino et al.

Summary: The study found that over one-third of individuals with Charcot-Marie-Tooth disease were dissatisfied with the appearance, comfort, and pain associated with ankle foot orthoses. However, their ratings of orthotic services were generally positive. This indicates that there is still room for improvement in AFO development.

MUSCLE & NERVE (2021)

添加到收藏夹

Article Neurosciences

Performance fatigability during gait in adults with Charcot-Marie-Tooth disease

Daniel S. Peterson et al.

Summary: In individuals with Charcot-Marie-Tooth disease, gait outcomes change significantly with fatigue, correlating with general life satisfaction but not perceived fatigue. This suggests performance fatigability during gait could be a target for rehabilitation for individuals with Charcot-Marie-Tooth disease.

GAIT & POSTURE (2021)

添加到收藏夹

Review Neurosciences

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

Chiara Pisciotta et al.

Summary: Effective drug treatment for Charcot-Marie-Tooth neuropathies (CMT) is still unavailable, with current management relying on rehabilitation therapy, surgery, and symptomatic treatment. Challenges include finding disease-modifying therapies and approaches like gene silencing, gene therapy, and compound interventions are being investigated. Various potential therapeutic strategies targeting different aspects of CMT are under development and testing.

BRAIN SCIENCES (2021)

添加到收藏夹

Review Chemistry, Multidisciplinary

From Exercise to Cognitive Performance: Role of Irisin

Mirko Pesce et al.

Summary: This passage discusses the beneficial effects of exercise on the brain, particularly in improving cognitive function in the elderly. Irisin, as an exercise-induced myokine, plays a key role in regulating bodily processes and stimulating the expression of neurotrophins.

APPLIED SCIENCES-BASEL (2021)

添加到收藏夹

Review Medicine, General & Internal

Interventions for promoting physical activity in people with neuromuscular disease

Katherine Jones et al.

Summary: The review examined the effects of physical activity-promoting interventions in individuals with neuromuscular diseases, finding a lack of evidence but suggesting interventions may help increase physical activity levels. Challenges included insufficient sample sizes, intervention disparities, and data incompleteness.

COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2021)

添加到收藏夹

Review Rehabilitation

REVIEW ARTICLE

J. Nonnekes et al.

Summary: Gait impairments in people with Charcot-Marie-Tooth disease are influenced by ankle-foot deformities, muscle weakness, and somatosensory impairments. Clinical management aimed at improving gait is crucial, but limited scientific evidence for conservative and surgical treatment options, as well as a lack of treatment algorithm, are present.

JOURNAL OF REHABILITATION MEDICINE (2021)

添加到收藏夹

Article Clinical Neurology

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study

L. Mori et al.

EUROPEAN JOURNAL OF NEUROLOGY (2020)

添加到收藏夹

Article Multidisciplinary Sciences

Functional ability and quality of life in critical illness survivors with intensive care unit acquired weakness: A secondary analysis of a randomised controlled trial

Sabrina Eggmann et al.

PLOS ONE (2020)

添加到收藏夹

Article Rehabilitation

The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment

Valeria Prada et al.

INTERNATIONAL JOURNAL OF REHABILITATION RESEARCH (2020)

添加到收藏夹

Article Clinical Neurology

Validation of the Italian version of theCharcot-Marie-ToothHealth Index

Chiara Pisciotta et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2020)

添加到收藏夹

Review Rehabilitation

Rehabilitation and COVID-19: the Cochrane Rehabilitation 2020 rapid living systematic review. Update as of August 31st, 2020

Alessandro de Sire et al.

EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE (2020)

添加到收藏夹

Article Rehabilitation

Appropriateness of admission to rehabilitation: definition of a set of criteria and rules through the application of the Delphi method

Andrea Merlo et al.

EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE (2020)

添加到收藏夹

Article Clinical Neurology

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity

Amanda Wallace et al.

NEUROLOGY (2019)

添加到收藏夹

Article Clinical Neurology

Balance impairment in pediatric charcot-marie-tooth disease

Timothy Estilow et al.

MUSCLE & NERVE (2019)

添加到收藏夹

Review Biochemistry & Molecular Biology

Charcot-Marie-Tooth: From Molecules to Therapy

Jonathan Morena et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

添加到收藏夹

Article Multidisciplinary Sciences

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study

Rachel A. Kennedy et al.

PLOS ONE (2019)

添加到收藏夹

Article Clinical Neurology

Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A

Jens Spiesshoefer et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2019)

添加到收藏夹

Review Clinical Neurology

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges

Menelaos Pipis et al.

NATURE REVIEWS NEUROLOGY (2019)

添加到收藏夹

Article Rehabilitation

Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A

Vivien Reynaud et al.

AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2019)

添加到收藏夹

Article Clinical Neurology

Intensive strength and balance training with the Kinect console (Xbox 360) in a patient with CMT1A

Emanuela Pagliano et al.

DEVELOPMENTAL NEUROREHABILITATION (2018)

添加到收藏夹

Review Neurosciences

Pain in Charcot-Marie-Tooth disease: an update

Helen Azevedo et al.

ARQUIVOS DE NEURO-PSIQUIATRIA (2018)

添加到收藏夹

Article Neurosciences

Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease

Iandra Maria Pinheiro de Franca Costa et al.

GAIT & POSTURE (2018)

添加到收藏夹

Article Rehabilitation

Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey

Gita M. Ramdharry et al.

PHYSIOTHERAPY RESEARCH INTERNATIONAL (2018)

添加到收藏夹

Article Neurosciences

Gait patterns of children and adolescents with Charcot-Marie-Tooth disease

Elizabeth Wojciechowski et al.

GAIT & POSTURE (2017)

添加到收藏夹

Article Behavioral Sciences

Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study

Kirsten L. Knak et al.

BRAIN AND BEHAVIOR (2017)

添加到收藏夹

Article Clinical Neurology

Effects of Self-Selected Exercise on Strength in Charcot-Marie-Tooth Disease Subtypes

Djurdja Djordjevic et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2017)

添加到收藏夹

Article Rehabilitation

The efficacy of functional surgery associated with early intensive rehabilitation therapy in Charcot-Marie-Tooth type 1A disease

Francesco Ferraro et al.

EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE (2017)

添加到收藏夹

Article Pediatrics

Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial

Joshua Burns et al.

LANCET CHILD & ADOLESCENT HEALTH (2017)

添加到收藏夹

Review Clinical Neurology

New developments in Charcot-Marie-Tooth neuropathy and related diseases

Davide Pareyson et al.

CURRENT OPINION IN NEUROLOGY (2017)

添加到收藏夹

Article Medicine, General & Internal

Nine-hole Peg Test and Ten-meter Walk Test for Evaluating Functional Loss in Chinese Charcot-Marie-Tooth Disease

Hui-Xia Niu et al.

CHINESE MEDICAL JOURNAL (2017)

添加到收藏夹

Article Genetics & Heredity

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

S. Rudnik-Schoeneborn et al.

CLINICAL GENETICS (2016)

添加到收藏夹

Article Clinical Neurology

Efficacy of focal mechanic vibration treatment on balance in Charcot-Marie-Tooth 1A disease: a pilot study

Costanza Pazzaglia et al.

JOURNAL OF NEUROLOGY (2016)

添加到收藏夹

Review Medicine, General & Internal

Rehabilitation Management of the Charcot-Marie-Tooth Syndrome A Systematic Review of the Literature

Bruno Corrado et al.

MEDICINE (2016)

添加到收藏夹

Review Public, Environmental & Occupational Health

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Lidiane Carine Lima Santos Barreto et al.

NEUROEPIDEMIOLOGY (2016)

添加到收藏夹

Article Pediatrics

Rehabilitation issues in Charcot-Marie-Tooth disease

Ozge Kenis-Coskun et al.

JOURNAL OF PEDIATRIC REHABILITATION MEDICINE (2016)

添加到收藏夹

Review Health Care Sciences & Services

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach

Donald McCorquodale et al.

JOURNAL OF MULTIDISCIPLINARY HEALTHCARE (2016)

添加到收藏夹

Review Health Care Sciences & Services

Telerehabilitation and recovery of motor function: a systematic review and meta-analysis

Michela Agostini et al.

JOURNAL OF TELEMEDICINE AND TELECARE (2015)

添加到收藏夹

Review Clinical Neurology

Systematic review of exercise for Charcot-Marie-Tooth disease

Amy D. Sman et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2015)

添加到收藏夹

Article Clinical Neurology

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

V. Fridman et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)

添加到收藏夹

Review Clinical Neurology

Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: An update

Meriem Tazir et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)

添加到收藏夹

Article Rehabilitation

Outcome Measures and Rehabilitation Treatment in Patients Affected by Charcot-Marie-Tooth Neuropathy A Pilot Study

Giovanni Maggi et al.

AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2011)

添加到收藏夹

Article Clinical Neurology

Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals

Federica Menotti et al.

NEUROMUSCULAR DISORDERS (2011)

添加到收藏夹

Article Clinical Neurology

Confirming the efficacy of intravenous immunoglobulin in CIDP through minimum clinically important differences: shifting from statistical significance to clinical relevance

I. S. J. Merkies et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

添加到收藏夹

Review Clinical Neurology

Diagnosis, natural history, and management of Charcot-Marie-Tooth disease

Davide Pareyson et al.

LANCET NEUROLOGY (2009)

添加到收藏夹

Article Medicine, General & Internal

The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies

Erik von Elm et al.

LANCET (2007)

添加到收藏夹

Article Rehabilitation

Effects of dynamic balance training during standing and stepping in patients with hereditary sensory motor neuropathy

Zlatko Matjacic et al.

DISABILITY AND REHABILITATION (2006)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.