View clinical trials related to Muscular Dystrophies.
Filter by:The progressive muscle weakness and contractures of the patients adversely affect their gait and balance. It is known that the disorder of the patients' balance and gait affects their functional capacity. The aim of this study is to examine the effects of bicycle ergometer training on gait and balance in children with Duchenne Muscular Dystrophy. Twenty-four children with DMD included in the study will be divided into two groups as home program and home program+bicycle ergometer training with block randomization method. Home program including stretching, respiratory, range of motion, posture and mild resistance exercise with body weight will be asked to apply 3-5 days a week for 12 weeks, aerobic training will be performed 3 days a week for 12 weeks at 60% of their maximum hearth rate with 40 minutes total duration consisting of 5 min warm up and 5 min cool down period. Gait and balance were evaluated with GAITrite and Bertec Balance Check Screener, successively. Assessments will be applied at pre-training and after 12 weeks of training.
Duchenne Muscular Dystrophy (DMD) is a progressive inherited disease that affects the muscles and causes functional limitations to varying degrees. It is vital to start physiotherapy follow-ups immediately after diagnosis. Patients with DMD are among the most vulnerable groups who have problems in accessing physiotherapy services during the COVID-19 pandemic. The aim of the study was to investigate the effects of the telerehabilitation program developed to protect the physical health of patients with DMD and not to interrupt their follow-up.
Duchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle degeneration and substitution with fat and connective tissue. The progressive muscle degeneration leads to loss of autonomous walking before the age of 15 years and death for cardiac and/or respiratory failure. There are no specific treatment for DMD, and the standard of care is now based on long-term corticosteroid (CS) use. The studies on bone mass in DMD are very few, but they agree in reporting the presence of a reduced bone mass and an increased rate of fractures probably due to long-term steroid therapy and disuse-osteopenia. The aim of this study, involving 20 ambulant DMD boys (age 7-10 years) has been the evaluation of the effects of low-level mechanical vibrations on bone in a group of ambulant DMD children for 1 year, with RDA-adjusted dietary calcium intake and 25OH vitamin D supplementation.
Purpose: This study aimed to evaluate the construct validity and reliability of the Turkish version of the Upper Limb Short Questionnaire (ULSQ) in Duchenne muscular dystrophy (DMD). Materials and methods: A total of 41 children with DMD have participated in the study. Upper and lower extremities functional levels were assessed with Vignos Scale and Brooke Upper Extremity Functional Rating Scale, respectively. The construct validity of the questionnaire was determined using the correlation between the ULSQ and ABILHAND-Kids. The Cronbach alpha value was calculated to determine internal consistency. To determine test-retest reliability, 17 randomly selected children were evaluated seven days after the first evaluation, and the "Intraclass Correlation Coefficient (ICC)" value was calculated.
The aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which included 10 physiotherapists who had experience in the management of patients with DMD over the 2-round Delphi method, and the Content Validity Index (CVI) was calculated. The final version of the DMD-GAS that was agreed upon the experts consisted of 10 items, and each item scored between 0 and 2. The intra-rater reliability was established by the video analysis of children with a 1-month interval and inter-rater reliability was determined by the scores of 3 physiotherapists. The criterion validity was determined by investigating the relationship between the total score of the DMD-GAS and Motor Function Measure (MFM), 6 Minute Walk Test (6MWT), and the data obtained from GAITRite system.
Disability-or apology; It is the inability or incompleteness of individuals to fulfill their roles in life, such as age, gender, culture, social and psychological factors, due to their inadequacies. Disability is not only a mental or physical health problem, but also a social problem. Having a disabled child and the type of disability present various difficulties to parents in the course of life. The difficulties in the care and education of these children are based on psychological, physical, social, economic and cultural realities.Families with diseases such as Cerebral Palsy (SP), Spina Bifida (SB), Muscular Dystrophy (MD), Down Syndrome (DS) are among them. Having a disabled child in the community can affect families in different ways. Every step of the education of disabled children (purpose, principle, education plan, game, school and family duties, etc.) is important for the disabled individual, family, teacher and society.
This study was planned to investigate the parental influence on physical activity (PA) level and participation in ambulatory children with Duchenne muscular dystrophy (DMD). For this purpose, 30 children with DMD between the ages of 8-18, who were between Levels 1-4 according to the Brooke Lower Extremity Functional Classification (BLEFC), were included in the study. The demographic information of the participants and their detailed information about the disease were recorded. Parents' PA level was assessed via International Physical Activity Questionnaire-Short Form (IPAQ-SF); Children's PA level was assessed via Physical Activity Questionnaire for Children (PAQ-C) and pedometer, participation was assessed via Pediatric Outcomes Data Collection Instrument (PODCI), and parental influence was assessed via Children's Physical Activity Correlates (CPAC). Additionally, children's PA interest was assessed via Children's Attraction to Physical Activity (CAPA). SPSS 25 program was used in the statistical analysis of the evaluation results. The mean age of the individuals included in the study was found to be 8,70±0,84. Parental influence evaluations, positive and weak-moderate correlations were determined between CPAC Questionnaire "Parental Influence" sub-dimension with PAQ-C (r=0,582), CAPA (0,432) and PODCI (r=0,372) (p<0,05). A positive, moderate correlation was found between the PA levels of mothers obtained from IPAQ-SF and PAQ-C (p<0,01). The results of the study show that the parents, especially the mother who is the primary caregiver, can be an important factor to improve the PA levels, increase their attraction to PA and participation in children with DMD.
Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, characterized by pronounced skeletal weakness and with a broad spectrum of diseases. It is a hereditary disease seen in 3-5/100,000 of society, usually starting with weakness in the facial and shoulder muscles and progressing to the trunk, pelvis and leg muscles, giving symptoms in the twenties. In FSHD, which shows slow progression and can lead to loss of ambulation ability in about 20% of patients, patients may have difficulty performing activities above shoulder level with the influence of the periscapular area. The goal of FSHD treatment is to improve muscle strength and/or function. Treatments include medical, conservative and surgical methods. The aim of surgical methods is to improve shoulder function and prevent pain caused by the movements of the scapula. The publications on physiotherapy interventions and aerobic exercise are available as conservative treatment. In patients diagnosed with FSHD, conservative treatment is frequently used to improve muscle strength, regulate function and improve the quality of life of patients. Patients with FSHD use their affected upper extremities asymmetrically, which leads to the development of restrictive compensation mechanisms in the development of symmetrical postural control. Postural control deficits may occur due to limited use of the affected scapula in individuals with FSHD. Accordingly, in cases with FSHD, there is the use of atypical movements for balance and mobility. It is not yet known whether people with FSHD really have poorer dynamic stability during self-initiated whole-body movements such as walking, and at what stage of the disease these difficulties arise. Accordingly, the aim of this study was to examine the effects of rehabilitation approaches applied to the upper limb on upper limb function, balance and walking in patients with FSHD. H1: Within the group of patients with FSHD patients underwent surgery arthrodesis surgery scapulothoracic applied to pre-treatment with the parameters of the rehabilitation program for the evaluation of upper limb functionality after applying the upper extremities, postural control and gait parameters examined, there is statistical difference between the groups.
The ARCH study is an open-label, single-center, Phase 1b study of sevasemtem (EDG-5506) to assess the safety and pharmacokinetics (PK) of sevasemten in adults with Becker muscular dystrophy (BMD). Sevasemten is an investigational product intended to protect and improve function of dystrophic muscle fibers.
AOC 1001-CS1 is a randomized, double-blind, placebo-controlled, Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients (MARINA). Part A is a single dose design with 1 cohort (dose level). In Part A, the patient duration is 6 months as the treatment period is 1 day followed by a 6 month follow-up period. Part B is a multiple-ascending dose design with 2 cohorts (dose levels). In Part B, the patient duration is 6 months as the treatment period is 3 months followed by a 3 month follow-up period.