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muscular dystrophy rehabilitation

Karen Schipper, Minne Bakker, Tineke Abma
PURPOSE: The aim of this article is to describe how fatigue affects the lives of people with facioscapulohumeral dystrophy (FSHD), how they experience fatigue, and how they deal with it in order to attune rehabilitation care to patients' needs. METHOD: A qualitative study, consisting of 25 semistructured interviews with patients with FSHD and severe fatigue (as measured with the checklist individual strength (CIS) fatigue questionnaire), was conducted to gain insight into the experiences of patients with fatigue...
October 20, 2016: Disability and Rehabilitation
Michal Elboim-Gabyzon, Osnat Atun-Einy, Insaf Khoury-Assaf
PURPOSE: To review the literature on the existent evidence considering the use of power wheel chair (PWC) for children with DMD who can still walk independently. METHODS: A systematic literature search was conducted through nine databases by the three authors independently. Both quantitative and qualitative research designs were considered for inclusion. Studies were included only if the study population consisted of ambulatory children diagnosed with DMD. Data extraction was on participant characteristics, level of walking and on outcomes in term of impairment, function and participation domains (ICF, World Health Organization, 2001) in accordance to a structured diagram by the three authors independently...
October 9, 2016: Disability and Rehabilitation
Juliette Ropars, Mathieu Lempereur, Sylvain Brochard, Carole Vuillerot, Vincent Tiffreau, Jean-Marie Cuisset, Yann Péréon, Fabien Leboeuf, Raphaël Gross, Ludovic Delporte, Yannick Delpierre
OBJECTIVE: The aim of this prospective study was to investigate changes in muscle activity during gait in children with Duchenne muscular Dystrophy (DMD). MATERIALS/PATIENTS AND METHODS: Dynamic surface electromyography recordings (EMGs) of 16 children with DMD and pathological gait were compared with those of 15 control children. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analyzed quantitatively and qualitatively...
September 2016: Annals of Physical and Rehabilitation Medicine
Stéphanie Fontaine Carbonnel, Pascal Rippert, Isabelle Poirot, Dominique Gachet, Capucine de Lattre, Carole Vuillerot
OBJECTIVE: Since 2005, in France, corticosteroid therapy is now widely used in Duchenne muscular dystrophy (DMD). This treatment has changed our practice of pediatric rehabilitation teams. We describe here our 10-year clinical experience in treating DMD patients by CS according to international guidelines i.e. prednisone 0.75mg/kg/day started from the plateau of motor function. MATERIALS/PATIENTS AND METHODS: We conducted a prospective study. Information was given on the expected effects and side effects...
September 2016: Annals of Physical and Rehabilitation Medicine
Juliette Ropars, Mathieu Lempereur, Carole Vuillerot, Vincent Tiffreau, Sylviane Peudenier, Jean-Marie Cuisset, Yann Pereon, Fabien Leboeuf, Ludovic Delporte, Yannick Delpierre, Raphaël Gross, Sylvain Brochard
The aim of this prospective study was to investigate changes in muscle activity during gait in children with Duchenne muscular Dystrophy (DMD). Dynamic surface electromyography recordings (EMGs) of 16 children with DMD and pathological gait were compared with those of 15 control children. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analysed quantitatively and qualitatively. The overall muscle activity in the children with DMD was significantly different from that of the control group...
2016: PloS One
Caterina Tramonti, Bruno Rossi, Carmelo Chisari
Low-intensity aerobic training seems to have positive effects on muscle strength, endurance and fatigue in Becker Muscular Dystrophy (BMD) patients. We describe the case of a 33-year old BMD man, who performed a four-week aerobic training. Extensive functional evaluations were executed to monitor the efficacy of the rehabilitative treatment. Results evidenced an increased force exertion and an improvement in muscle contraction during sustained exercise. An improvement of walk velocity, together with agility, endurance capacity and oxygen consumption during exercise was observed...
June 13, 2016: European Journal of Translational Myology
Andrew Frank
Work is important for one's self-esteem, social standing and ability to participate in the community as well as for the material advantages it brings to individuals and their families. The evidence suggests that the benefits of employment outweigh the risks of work and are greater than the risks of long-term unemployment or sickness absence. Individuals may be born with physical or intellectual disadvantages (e.g., cerebral palsy), or they may be acquired during childhood or adult life. Some progressive conditions may present in childhood or adolescence (e...
July 16, 2016: Healthcare (Basel, Switzerland)
Robin S Howard
PURPOSE OF REVIEW: Understanding the mechanisms and abnormalities of respiratory function in neuromuscular disease is critical to supporting the patient and maintaining ventilation in the face of acute or chronic progressive impairment. RECENT FINDINGS: Retrospective clinical studies reviewing the care of patients with Guillain-Barré syndrome and myasthenia have shown a disturbingly high mortality following step-down from intensive care. This implies high dependency and rehabilitation management is failing despite evidence that delayed improvement can occur with long-term care...
October 2016: Current Opinion in Neurology
Yi-Jing Lue, Shun-Sheng Chen, Yen-Mou Lu
PURPOSE: This study investigated quality of life (QOL) in adolescent and young men with Duchenne muscular dystrophy (DMD). METHODS: Health-related QOL and global QOL were assessed with the Short Form 36 (SF-36) and World Health Organization Quality of Life-BREF (WHOQOL-BREF). Associations between functional status and QOL were assessed. RESULTS: All domains of the SF-36 were below Taiwan norms (effect size: -14.2 to -0.5), especially Physical Function, Role Physical, and Social Function...
June 27, 2016: Disability and Rehabilitation
Antoine Dany, Amandine Rapin, Christian Réveillère, Arnaud Calmus, Vincent Tiffreau, Isabella Morrone, Jean-Luc Novella, Damien Jolly, François Constant Boyer
PURPOSE: A qualitative work is conducted to enable later the construction of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. METHODS: The formation of focus groups is an efficient method to perform an in-depth exploration of the aspects of HRQL potentially impaired by NMD. Patients were recruited in France by 4 NMD reference centers. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP)...
June 24, 2016: Disability and Rehabilitation
Laura Edwards, Margaret Phillips
The Royal College of Physicians (RCP) and the British Society of Rehabilitation Medicine co-hosted a meeting entitled 'Neuromuscular conditions for physicians - what you need to know' at the RCP on 30 November 2015. There was a series of talks, ranging from in-depth genetic and molecular descriptions of pathology to multidisciplinary management of chronic neuromuscular conditions, which stimulated lively debate and discussion. Some overarching themes emerged from the day, most notably: i) the changing expectations and survival rates in Duchenne muscular dystrophy (DMD), which are transforming this disorder into an adult as much as a paediatric condition; ii) the need for integrated management and good communication -between services - whether primary, secondary and tertiary care, medical teams and intensivists, or the multiple teams involved in providing treatment to neuromuscular patients; and iii) in line with the above, the essential need for streamlining care such that patients can avoid spending most of their time attending outpatient appointments, and instead concentrate on living full lives and exploring educational, occupational, leisure and social opportunities...
June 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
Minne Bakker, Karen Schipper, Alexander C Geurts, Tineke A Abma
PURPOSE: Little is known about the illness experiences of people with Facioscapulohumeral Muscular Dystrophy (FSHD). The aim of this study was to provide insight into the illness experiences of people with FSHD in order to tailor rehabilitation programs to individual needs and expectations. METHODS: Twenty-five semi-structured interviews were conducted with people with FSHD. The interviews were audiotaped, transcribed and member checked. Computerized (MAXqda) and manual techniques were used for thematic data analysis...
May 23, 2016: Disability and Rehabilitation
Alok Sharma, Hemangi Sane, Nandini Gokulchandra, Rishabh Sharan, Amruta Paranjape, Pooja Kulkarni, Jayanti Yadav, Prerna Badhe
Becker muscular dystrophy (BMD) is an inherited disorder due to deletions of the dystrophin gene that leads to muscle weakness. Effects of bone marrow mononuclear cell (BMMNC) transplantation in Muscular Dystrophy have shown to be safe and beneficial. We treated a 20-year-old male suffering from BMD with autologous BMMNC transplantation followed by multidisciplinary rehabilitation. He presented with muscle weakness and had difficulty in performing his activities. The BMMNCs were transplanted via intrathecal and intramuscular routes...
February 23, 2016: European Journal of Translational Myology
Shree Pandya, Jennifer Andrews, Kim Campbell, F John Meaney
PURPOSE: To document use of rehabilitative technology among individuals with Duchenne/Becker muscular dystrophy (DBMD) among sites of the Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet). METHODS: Data from 362 caregivers who participated in the MD STARnet caregiver interview between April 2006 and March 2012 (54.7% response rate) were analyzed to assess the type, frequency and duration of use of assistive technology. RESULTS: Caregiver reports of technology use by individuals with DBMD across five MD STARnet sites in the US demonstrated significant regional differences in the proportion of individuals who had ever used night splints (36...
2016: Journal of Pediatric Rehabilitation Medicine
Han Eol Cho, Jang Woo Lee, Seong Woong Kang, Won Ah Choi, Hyeonjun Oh, Kil Chan Lee
OBJECTIVE: To evaluate pulmonary functions of patients with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and myotonic muscular dystrophy (MMD) at the onset of ventilatory insufficiency. METHODS: This retrospective study included ALS, DMD, and MMD patients with regular outpatient clinic follow-up in the Department of Rehabilitation Medicine at Gangnam Severance Hospital before the application of non-invasive positive pressure ventilation (NIPPV)...
February 2016: Annals of Rehabilitation Medicine
Arjen Bergsma, Edith H C Cup, Mariska M H P Janssen, Alexander C H Geurts, Imelda J M de Groot
Purpose To investigate the upper extremity (UE) at the level of impairments and related activity limitations and participation restrictions in people with facioscapulohumeral muscular dystrophy (FSHD). Methods The study was conducted using web-based questionnaires that were distributed amongst people with FSHD in the Netherlands. Eighty-eight respondents started the survey, and 71 completed it. The questionnaires covered the following dimensions: Function, Activity and Participation of the International Classification of Functioning Disability and Health...
March 4, 2016: Disability and Rehabilitation
C Boulay, G Finidori
Although the clinical picture and the natural progression of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) differ, borderline forms exist. Classical orthopaedic treatment is based on self-rehabilitation (by the parents and the patient), physical therapy, posture alignment with orthotics, ergotherapy to set up technical aides, notably positioning in an electric wheelchair to provide more satisfactory autonomy. The functional aspect predominates over pure orthopaedics. Although surgical indications have evolved for the lower limbs, pelvic-spinal arthrodesis for treatment of scoliosis remains the reference treatment, but the methods have evolved since the advent of corticotherapy for DMD...
December 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Antonella LoMauro, Maria Grazia D'Angelo, Andrea Aliverti
Duchenne muscular dystrophy (DMD) is an X-linked myopathy resulting in progressive weakness and wasting of all the striated muscles including the respiratory muscles. The consequences are loss of ambulation before teen ages, cardiac involvement and breathing difficulties, the main cause of death. A cure for DMD is not currently available. In the last decades the survival of patients with DMD has improved because the natural history of the disease can be changed thanks to a more comprehensive therapeutic approach...
2015: Therapeutics and Clinical Risk Management
Kathi Kinnett, Sunil Rodger, Elizabeth Vroom, Pat Furlong, Annemieke Aartsma-Rus, Kate Bushby
Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists are largely aware of these care standards, local physicians responsible for the day-to-day care of patients and families may be less familiar...
2015: PLoS Currents
Muhammed Kilinç, Sibel A Yildirim, Ersin Tan
OBJECTIVE: To evaluate and compare the effects of exercise therapy and electrical stimulation on muscle strength and functional activities in patients with limb-girdle muscular dystrophy (LGMD). METHODS: This controlled clinical trial included 24 subjects who were diagnosed with LGMD by the Neurology Department of the Hacettepe University Hospital, Ankara, Turkey and were referred to the Physical Therapy Department between May 2013 and December 2014. Subjects were enrolled into an electrical stimulation (11 patients) group, or an exercise therapy (13 patients) group...
July 2015: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
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