Patient Reported Falls and Balance Confidence in Individuals with Charcot-Marie-Tooth Disease

2016 ◽  
Vol 3 (2) ◽  
pp. 289-292 ◽  
Author(s):  
Katy Eichinger ◽  
Karen Odrzywolski ◽  
Janet Sowden ◽  
David N. Herrmann
Keyword(s):  
Charcot Marie Tooth ◽  
Balance Confidence ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Tooth Disease

Biomechanical effects of sensorimotor orthoses in adults with Charcot–Marie–Tooth disease

2015 ◽  
Vol 40 (4) ◽  
pp. 436-446 ◽  
Author(s):  
Caleb Wegener ◽  
Katrin Wegener ◽  
Richard Smith ◽  
Karl-Heinz Schott ◽  
Joshua Burns
Keyword(s):  
Lower Limb ◽  
Repeated Measures ◽  
Three Dimensional ◽  
Walking Ability ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Custom Made ◽  
Patient Reported ◽  
Tooth Disease

Background: Charcot–Marie–Tooth disease is an inherited neuropathy causing progressive weakness, foot deformity and difficulty walking. Clinical anecdotes suggest orthoses designed on the ‘sensorimotor’ paradigm are beneficial for improving gait in Charcot–Marie–Tooth disease. Objectives: Investigate the effect of sensorimotor orthoses on in-shoe and lower limb biomechanics in adults with Charcot–Marie–Tooth disease. Study design: Randomised, repeated-measures, exploratory study. Methods: Eight males and two females with Charcot–Marie–Tooth disease aged 31–68 years fitted with pedorthic shoes and custom-made sensorimotor orthoses were randomly tested at baseline and after 4 weeks of adaptation. In-shoe three-dimensional multi-segment foot and lower limb kinematics and kinetics were collected as were plantar pressures, electromyography and self-reported comfort, stability, cushioning and preference. Results: Compared to the shoe only condition, sensorimotor orthoses increased midfoot eversion and plantarflexion, increased ankle eversion and produced small but significant changes at the knee and hip indicating increased internal rotation. The orthoses increased medial ground reaction forces and increased pressure at the heel, midfoot and toes. There were minimal effects on electromyography. The sensorimotor orthoses were rated higher for comfort, cushioning, stability and preference. Conclusion: Sensorimotor orthoses produced changes in kinematic, kinetic and pressure variables in adults with Charcot–Marie–Tooth disease and were regarded as more comfortable, cushioned and stable during walking. Clinical relevance In this study, the walking ability of patients with Charcot–Marie–Tooth disease improved with the use of foot orthoses designed according to the sensorimotor paradigm. However, the mechanism of action appears to be primarily mechanical in origin. Randomised controlled trials are necessary to evaluate the long-term patient-reported outcomes of sensorimotor orthoses.

scholarly journals PRO84 PATIENT-REPORTED BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A IN EUROPE AND THE US MEASURED USING A DIGITAL APP

2020 ◽  
Vol 23 ◽  
pp. S343-S344
Author(s):  
F.P. Thomas ◽  
S. Attarian ◽  
A. Gray ◽  
C. Hollett ◽  
A. Moore ◽  
...  
Keyword(s):  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
The Us ◽  
Tooth Disease

scholarly journals Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2021 ◽  
Vol 11 (1) ◽  
pp. 21-33
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Unmet Needs ◽  
Sensory Neuropathy ◽  
Smartphone Application ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Selection Of ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy affecting the peripheral nervous system. This study will explore the real-world impact of CMT. The trial is a digital study of approximately 2000 people in 6 countries with CMT ≥18 years. Participants will use a smartphone application to check eligibility, provide consent and contribute data. The dataset will include a personal profile, covering demographics, lifestyle, diagnosis and treatment and a selection of validated generic and disease-specific instruments. Participants will provide data for up to 2 years. Data analysis will be conducted upon registration of the 1000th participant and at 12-month intervals from launch. This study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients. ClinicalTrials.gov identifier: NCT03782883

scholarly journals The patient-reported impact of Charcot-Marie-Tooth disease in the real world: the design and conduct of a digital lifestyle study (CMT&Me)

2020 ◽  
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Sensory Loss ◽  
Measurement Information ◽  
Lower Extremity Function ◽  
Specific Patient ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Tooth Disease

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, ≥ 18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

scholarly journals Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2020 ◽  
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Sensory Loss ◽  
Measurement Information ◽  
Lower Extremity Function ◽  
Specific Patient ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Tooth Disease

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

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