A5086955823- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Cerebral Palsy and Movement Disorders
- Muscle activation and electromyography studies
- Prosthetics and Rehabilitation Robotics
- Childhood Cancer Survivors' Quality of Life
- Family and Disability Support Research
- Respiratory Support and Mechanisms
- Child Nutrition and Feeding Issues
- Genetic Neurodegenerative Diseases
- Health Systems, Economic Evaluations, Quality of Life
- Aging, Health, and Disability
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Children's Physical and Motor Development
- GDF15 and Related Biomarkers
- Art Therapy and Mental Health
- Palliative Care and End-of-Life Issues
- Pharmaceutical studies and practices
- MXene and MAX Phase Materials
- Hip and Femur Fractures
- Long-Term Effects of COVID-19
- Pediatric Pain Management Techniques
National Rehabilitation Center
2010-2014
Danish National Research Foundation
2008-2013
Muscular Dystrophy Foundation
1995-2012
Czech Academy of Sciences, Institute of Physiology
1995
Aarhus University
1995
The knowledge of adult life with Duchenne muscular dystrophy (DMD) is sparse. purpose this study was to review existing information and describe body functional, social participatory quality profiles the ordinary Danish DMD patient. Sixty-five subjects aged 18-42 years were included in a cross-sectional survey based on data from semi-structured questionnaire comprising 197 items. patient states his as excellent; he worried neither about disease nor future. His assessment income, hours...
Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied 9 motor in spinal muscular atrophy (SMA).
Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial patients Europe, compares it to guidelines.A cross-sectional 1677 contacted via TREAT-NMD registries conducted using self-report questionnaires seven European countries.Survey respondents were 861 children 201 adults. Data describe population with mean age 13.0 years (range...
The EK scale comprises ten categories (EK 1-10), each contributing to an overall picture of function in the non-ambulatory stage Duchenne muscular dystrophy (DMD). purpose present study was investigate content and construct validity as a tool discriminate between levels functional ability individuals with DMD or spinal atrophy (SMA) who were non-ambulatory.Data from sample 56 subjects 38 SMA, non-ambulatory, obtained four separate studies. relationship by use (1) muscle strength, (2)...
We aimed at studying fracture risk in patients with Duchenne's muscular dystrophy (DMD), Becker's (BEMD), and spinal atrophy type II III (SMA III). A self-administered questionnaire was mailed to 293 DMD, BEMD, SMA or of which 229 returned the questionnaire. Each respondent compared an age- gender-matched control subject. The mean age 23.9 +/- 15.9 years for 23.3 16.5 controls. There were significantly more fractures among than controls after diagnosis made (RR = 1.9), but not before. had...
The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal atrophy (SMA) the non‐ambulatory stages diseases. Nineteen DMD (all males; 13 24 years) SMA (six males, seven females; 11 57 were assessed once a year over 5 years. assessments comprised ability measured EK scale upper extremity grade, strength manual test, capacity defined as percentage normal values...
The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal atrophy (SMA) the non-ambulatory stages diseases. Nineteen DMD (all males; 13 24 years) SMA (six males, seven females; 11 57 were assessed once a year over 5 years. assessments comprised ability measured EK scale upper extremity grade, strength manual test, capacity defined as percentage normal values...
dreyer p.s., steffensen b.f. & pedersen b.d. (2010) Life with home mechanical ventilation for young men Duchenne muscular dystrophy. Journal of Advanced Nursing 66 (4), 753–762. Abstract Title. dystrophy Aim. This paper is a report study from patient perspective the life experiences among Background. People chronic respiratory failure due to neuromuscular diseases have been offered life‐long ventilator support at more than decade. having this treatment are positive about it and agree on...
To study life-experiences of people living with Duchenne's muscular dystrophy (DMD), home mechanical ventilation (HMV) and physical impairment.Since the introduction invasive HMV in late 1980s DMD Denmark live longer have experience adulthood a high degree dependency.Nineteen patients were interviewed 2007. The interviews recorded, transcribed verbatim analysed according to method inspired by Ricoeur's theory interpretation.HMV not only extended participants lifespan, it also gave them...
To evaluate the ability of four clinical methods to reflect arm and hand function at impairment activity level determine their discriminate among SMA II patients all ages in stages disease.Fifty-two with (age range: 8-73 years) were assessed by means Egen Klassifikation 2 (EK2 scale), Motor Function Measure Scale (MFM D3), Manual Muscle Test (MMT) Hand-Held Dynamometry (HHD) full fist grip lateral pinch grip. Patients classified into six levels upper limb Brooke Upper Limb Scale, methods'...
The EK {Egen Klassifikation} scale was developed to assess overall functional ability in the non-ambulatory stage of Duchenne muscular dystrophy (DMD). purpose this study examine reliability scale. Six subjects with DMD, selected as representative entire range seen nonambulatory phase disease, were video recorded and assessed using assessment required both interview performance activities. records shown 17 healthcare professionals comprising seven three physiotherapy students, four...
Duchenne muscular dystrophy (DMD) is the most common childhood dystrophy, affecting 1 in 3500 live male births. Mutations X chromosome result an absence of dystrophin, causing progressive muscle degeneration and loss ambulation by early teens with respiratory, orthopaedic cardiac complications. Without intervention these complications lead to death at a mean age 19 years. However, natural history DMD well-known can be changed proactive multidisciplinary management address predictable...
Spinal muscular atrophy (SMA) and Duchenne dystrophy (DMD) are two neuromuscular diseases which evolve with a progressive loss of muscle strength and, therefore, the functional capacity. The valuation measurement scales used to understand better quantify this involution as well making treatment anticipate problems improve quality life people suffering from these diseases.To study changes in capacity group patients SMA DMD, over period three years.Nineteen individuals Spanish population...