scholarly journals Positive effect of the combination of multilevel contracture release and glucocorticoid treatment in Duchenne muscular dystrophy

2020 ◽  
Vol 14 (4) ◽  
pp. 349-352
Author(s):  
Claudia Weiß ◽  
Corinna Stoltenburg ◽  
Dilan Bayram ◽  
Julia Funk ◽  
Susanne Lebek
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Treatment Options ◽  
Lower Limbs ◽  
Level Of Evidence ◽  
Glucocorticoid Treatment ◽  
Positive Effects ◽  
Contracture Release ◽  
Independent Ambulation ◽  
Positive Effect

Purpose In the 1980s the first results of an early multilevel contracture release (MLCR) in patients suffering from progressive Duchenne muscular dystrophy (DMD) showed a positive effect on ambulation. Despite the demonstrated positive effects of prolongation of walking this treatment is not part of current guidelines. The aim of our study was to evaluate the effect of MLCR as well as its combination with glucocorticoid (GC) treatment on ambulation. Methods Data of all boys (n = 86) with DMD treated in our outpatient department were analyzed regarding the treatment and loss of independent ambulation. In all, 23 were treated with GC only, ten were operated on, 21 received GC and underwent MLCR and 32 received neither of the two treatments. Results The analysis of the loss of independent ambulation in our cohort showed a comparable extension of the ambulatory period between the GC-treated and MLCR-treated boys (p = 0.008 and p = 0.005, respectively). Furthermore, an additive effect of both therapies was found; patients with DMD who had both treatments were able to walk two years longer than those with only one of the two treatment options (p<0.001). Conclusion Standard GC treatment and early MLCR in lower limbs have an independent positive effect on prolongation of ambulation in patients with DMD. In our cohort, the combination of both therapies is significantly more effective than each therapy alone. We suggest both should be offered to all DMD patients eligible. Level of evidence: III

scholarly journals Metabolomic Analyses Reveal Extensive Progenitor Cell Deficiencies in a Mouse Model of Duchenne Muscular Dystrophy

Metabolites ◽  
2018 ◽  
Vol 8 (4) ◽  
pp. 61 ◽  
Author(s):  
Josiane Joseph ◽  
Dong Cho ◽  
Jason Doles
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Progenitor Cell ◽  
Treatment Options ◽  
Cell Types ◽  
Mdx Mouse ◽  
Mdx Mice ◽  
Metabolic Alterations ◽  
Potential Contributor

Duchenne muscular dystrophy (DMD) is a musculoskeletal disorder that causes severe morbidity and reduced lifespan. Individuals with DMD have an X-linked mutation that impairs their ability to produce functional dystrophin protein in muscle. No cure exists for this disease and the few therapies that are available do not dramatically delay disease progression. Thus, there is a need to better understand the mechanisms underlying DMD which may ultimately lead to improved treatment options. The muscular dystrophy (MDX) mouse model is frequently used to explore DMD disease traits. Though some studies of metabolism in dystrophic mice exist, few have characterized metabolic profiles of supporting cells in the diseased environment. Using nontargeted metabolomics we characterized metabolic alterations in muscle satellite cells (SCs) and serum of MDX mice. Additionally, live-cell imaging revealed MDX-derived adipose progenitor cell (APC) defects. Finally, metabolomic studies revealed a striking elevation of acylcarnitines in MDX APCs, which we show can inhibit APC proliferation. Together, these studies highlight widespread metabolic alterations in multiple progenitor cell types and serum from MDX mice and implicate dystrophy-associated metabolite imbalances in APCs as a potential contributor to adipose tissue disequilibrium in DMD.

Vitamin D in the prevention and treatment of comorbid conditions in Duchenne muscular dystrophy

2021 ◽  
Vol 2 (1) ◽  
pp. 38-50
Author(s):  
Tatiana A. Gremiakova ◽  
Vasiliy M. Souslov ◽  
Gulzhan E. Sakbaeva ◽  
Andrey A. Stepanov
Keyword(s):  
Vitamin D ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Steroid Therapy ◽  
Motor Development ◽  
Smooth Muscles ◽  
Comorbid Conditions ◽  
Increased Risk ◽  
Positive Effect ◽  
Tubular Bones

Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative neuromuscular disorder due to a deficiency of dystrophin protein. This protein is most common in skeletal and cardiac muscles, to a lesser extent in smooth muscles and the brain. With DMD, progressive damage and muscle degeneration, a delay in motor development, and respiratory cardiac disorders are progressing. Patients with DMD have an increased risk of developing osteoporosis, fractures of the tubular bones and vertebrae, and neurocognitive impairment. Vitamin D is recommended prophylactically for DMD since many studies have shown its deficiency. The purpose of this work is to consolidate the literature data on the vitamin D deficiency in DMD patients and its effects on the development of concurrent comorbid conditions of the musculoskeletal, endocrine, and nervous systems. The authors discuss data concerning the appropriate level of vitamin D throughout the life span of DMD has a positive effect on the course of the disease patients’ quality of life ends. Primary clinical outcomes of vitamin D normalization include prevention of the development of osteoporosis (especially after the start of steroid therapy), fractures of the tubular bones and vertebrae, prolonged ability to walk, more effective treatment with bisphosphonates, including a decrease in the number of complications during initial use and lower jaw necrosis, positive effect on the expression of autistic spectrum symptoms. For patients with long-term steroid therapy, metabolic and liver disorders, calcidiol could be used, allowing quick deficiency compensation instead of standard vitamin D preparations.

Glucocorticoid Treatment for the Prevention of Scoliosis in Children with Duchenne Muscular Dystrophy: Long-Term Follow-up

2013 ◽  
Vol 95 (12) ◽  
pp. 1057-1061 ◽  
Author(s):  
David E Lebel ◽  
John A Corston ◽  
Laura C McAdam ◽  
W Douglas Biggar ◽  
Benjamin A Alman
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Glucocorticoid Treatment ◽  
Long Term Follow Up

scholarly journals Duchenne Muscular Dystrophy: Canadian Paediatric Neuromuscular Physicians Survey

2010 ◽  
Vol 37 (2) ◽  
pp. 195-205 ◽  
Author(s):  
Hugh J. McMillan ◽  
Craig Campbell ◽  
Jean K. Mah
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Vitamin D Supplementation ◽  
Cardiac Complications ◽  
Multidisciplinary Teams ◽  
Health Maintenance ◽  
Routine Surveillance ◽  
Independent Ambulation ◽  
Recommended Guidelines ◽  
Night Splints

Background:Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood.Method:To assess the current care of paediatric DMD patients in Canada, a questionnaire was mailed to 17 physicians who were members of the Canadian paediatric neuromuscular group. Areas of enquiry included; 1) multidisciplinary team composition; 2) means of DMD diagnosis; 3) corticosteroid use; surveillance and management for: 4) orthopaedic, 5) respiratory and 6) cardiac complications and 7) health maintenance (nutrition & immunizations).Results:Completed surveys were returned by 14/17 (82%) of physicians. Twelve respondents followed DMD patients. All centres had multidisciplinary teams, including respirology (11/12), child neurology or physiatry (11), physiotherapy (9), occupational therapy (9) and orthopaedic surgery (7). Deflazacort 0.9mg/kg/d was used at all centres, which was continued after loss of independent ambulation (11), along with routine calcium and vitamin D supplementation (10). Night splints were prescribed at all centres. Routine surveillance studies included pulmonary function testing (11), sleep studies (10), EKG/echocardiogram (10), bone density (DEXA) scans (10), spine radiography (9), and dietician referral (4).Conclusion:Paediatric DMD patients are receiving relatively consistent care in multidisciplinary clinics across Canada, in accordance with recommended guidelines for DMD.

scholarly journals Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy

2014 ◽  
Vol 72 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Joyce Martini ◽  
Mariana Callil Voos ◽  
Michele Emy Hukuda ◽  
Maria Bernadete Dutra de Resende ◽  
Fátima Aparecida Caromano
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Upper Limb ◽  
Lower Limbs ◽  
Functional Evaluation ◽  
Functional Activities ◽  
Lumbar Hyperlordosis ◽  
Base Of Support ◽  
Transitional Phase

Objective: During the transitional phase (ambulatory to non-ambulatory), synergies characterize the evolution of Duchenne muscular dystrophy (DMD). This study was performed to describe and quantify compensatory movements while sitting down on/rising from the floor and climbing up/down steps. Method: Eighty videos (5 children × 4 assessments × 4 tasks) were recorded quarterly in the year prior to gait loss. Compensatory movements from the videos were registered based on the Functional Evaluation Scale for DMD. Results: The most frequently observed compensatory movements were upper limb support on lower limbs/floor/handrail during all the tasks and lumbar hyperlordosis, trunk support on handrail, equinus foot, increased base of support, non-alternated descent, and pauses while climbing up/down steps. Conclusion: Climbing up/down steps showed a higher number of compensatory movements than sitting down on/rising from the floor, which seemed to be lost before climbing up/down steps in ambulatory children with DMD.

Long-Term Outcome of Interdisciplinary Management of Patients with Duchenne Muscular Dystrophy Receiving Daily Glucocorticoid Treatment

2017 ◽  
Vol 182 ◽  
pp. 296-303.e1 ◽  
Author(s):  
Brenda L. Wong ◽  
Irina Rybalsky ◽  
Karen C. Shellenbarger ◽  
Cuixia Tian ◽  
Mary A. McMahon ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Interdisciplinary Management ◽  
Glucocorticoid Treatment ◽  
Term Outcome ◽  
Long Term Outcome

scholarly journals Validation of Chemokine Biomarkers in Duchenne Muscular Dystrophy

Life ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 827
Author(s):  
Michael Ogundele ◽  
Jesslyn S. Zhang ◽  
Mansi V. Goswami ◽  
Marissa L. Barbieri ◽  
Utkarsh J. Dang ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Early Stage ◽  
Wild Type Mouse ◽  
Muscle Disease ◽  
Mdx Mouse ◽  
Control Group ◽  
P Value ◽  
Glucocorticoid Treatment

Duchenne muscular dystrophy (DMD) is a progressive muscle disease involving complex skeletal muscle pathogenesis. The pathogenesis is triggered by sarcolemma instability due to the lack of dystrophin protein expression, leading to Ca2+ influx, muscle fiber apoptosis, inflammation, muscle necrosis, and fibrosis. Our lab recently used two high-throughput multiplexing techniques (e.g., SomaScan® aptamer assay and tandem mass tag-(TMT) approach) and identified a series of serum protein biomarkers tied to different pathobiochemical pathways. In this study, we focused on validating the circulating levels of three proinflammatory chemokines (CCL2, CXCL10, and CCL18) that are believed to be involved in an early stage of muscle pathogenesis. We used highly specific and reproducible MSD ELISA assays and examined the association of these chemokines with DMD pathogenesis, age, disease severity, and response to glucocorticoid treatment. As expected, we confirmed that these three chemokines were significantly elevated in serum and muscle samples of DMD patients relative to age-matched healthy controls (p-value < 0.05, CCL18 was not significantly altered in muscle samples). These three chemokines were not significantly elevated in Becker muscular dystrophy (BMD) patients, a milder form of dystrophinopathy, when compared in a one-way ANOVA to a control group but remained significantly elevated in the age-matched DMD group (p < 0.05). CCL2 and CCL18 but not CXCL10 declined with age in DMD patients, whereas all three chemokines remained unchanged with age in BMD and controls. Only CCL2 showed significant association with time to climb four steps in the DMD group (r = 0.48, p = 0.038) and neared significant association with patients’ reported outcome in the BMD group (r = 0.39, p = 0.058). Furthermore, CCL2 was found to be elevated in a serum of the mdx mouse model of DMD, relative to wild-type mouse model. This study suggests that CCL2 might be a suitable candidate biomarker for follow-up studies to demonstrate its physiological significance and clinical utility in DMD.

scholarly journals INCIDENCE OF INJURIES IN SOCCER PLAYERS – MAPPINGFOOT: A PROSPECTIVE COHORT STUDY

2021 ◽  
Vol 27 (2) ◽  
pp. 189-194
Author(s):  
Felix Albuquerque Drummond ◽  
Douglas dos Santos Soares ◽  
Hélder Gabriel Rodrigues da Silva ◽  
Denise Entrudo ◽  
Sohaila Dalbianco Younes ◽  
...  
Keyword(s):  
Cohort Study ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Body Part ◽  
The Body ◽  
Lower Limbs ◽  
Level Of Evidence ◽  
Male Athletes ◽  
Positive Effects ◽  
Professional Soccer

ABSTRACT Introduction: Although the positive effects of physical activity on global health are well documented, sports practice is associated with a greater risk of injury; in professional soccer in particular, the risk is substantial. Objective: The primary objective of this study was to investigate the incidence of injuries among male athletes competing in the regional soccer championship. The secondary objective was to determine the prevalence of injuries. Methods: In this prospective cohort study, level of evidence II, the incidence and prevalence of injuries were assessed using an adapted version of the UEFA Champions League Study questionnaire. Results: This study included 310 male athletes from ten teams, aged 26.53±4.75 years, height 180.93±6.49 cm, and weight 79.32±8.29 kg, with a 4-month follow-up. Ninety-two injuries were recorded, representing a prevalence of 29.68% injuries. The body part most frequently injured was the lower limbs (86.9%). The main types of injuries were muscle tear/strain (37.0%), sprain/ligament (19.6%), and other injuries (14.1%). The injuries were mainly caused during run/sprint (33.7%), kick (12.0%) and jumping/landing (6.5%). The incidences of injuries were 15.88±8.57, 2.04±1.09, and 3.65±1.50 injuries/1000h of exposure during matches, training, and matches/training, respectively. Time-loss over the season was between 1 and 50 days, and the severity of the injuries was as follows: light (25%), minor (22.8%), moderate (43.5%) and severe (8.7%). Conclusion: This study suggests that there is a higher incidence of injuries during matches compared to training, among male regional soccer championship players. The lower limbs are the body part most affected, with a higher prevalence of rupture/strain in the thigh region, during running/sprinting. Level of evidence II; Prospective Cohort Study .

scholarly journals Correlation analysis of T2-weighted images and Medical Research Council scale in corticosteroid-naive patients with Duchenne muscular dystrophy

2017 ◽  
Vol 8 (6) ◽  
pp. 72-79
Author(s):  
Vasiliy M. Suslov ◽  
Alexander V. Pozdnyakov ◽  
Dmitry O. Ivanov ◽  
Dmitry I. Rudenko ◽  
Damir A. Malekov ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Medical Research ◽  
Skeletal Muscles ◽  
Research Council ◽  
Medical Research Council ◽  
Pelvic Girdle ◽  
Lower Limbs

Because of the necessity of objective instrumental methods for assessing the state of skeletal musculature in patients with Duchenne muscular dystrophy, the aim of our work was to evaluate the correlation between manual methods of assessment of the muscle strength and the results of magnetic resonance imaging (MRI) of the skeletal muscles of lower limbs. We have examined 15 corticosteroid-naive patients with Duchenne muscular dystrophy. Patients were divided into 2 groups: ambulant patients (average age 8.1 years) and non-ambulant patients (mean age 12.7 years). Muscle strength of lower extremities of all patients has been evaluated by Medical Research Council scale and MRI of skeletal muscles of the pelvic girdle, thighs and lower legs has been performed. The following results have been obtained: ambulant patients have been characterized by a high correlation of MRC scale and MRI of the lower extremities in the evaluation of the pelvic girdle and thighs muscles and the total score (pelvic girdle, thighs and lower legs) and salient correlation in the evaluation of the lower legs muscles. Non-ambulant patients have been characterized by moderate correlation in the evaluation of pelvic girdle and thighs muscles, as well as the total score of lower limbs. There was no correlation between MRC and MRI results in the muscles of the lower legs. Magnetic resonance tomography is able to reliably estimate the degree of fatty infiltration in Duchenne muscular dystrophy and is the method of choice in the diagnosis and evaluation of the severity of this disease.

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