1 kompetansesenter for medfødte muskelsykdommer oslo universitetssykehus og barneavdelingen sykehuset østfold fredrikstad. 3 barneavdeling for nevrofag og kompetansesenter for medfødte muskelsykdommer oslo universitetssykehus.

background:

duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. In the last twenty years, treatments have been established that have significantly improved patients' quality of life and life expectancy. The purpose of this article is to outline the main features of the disease and its treatment, and to examine possible future treatment options. The article is based on a literature search in pubmed, current international guidelines and our own clinical experience.

Close monitoring by an interdisciplinary rehabilitation team forms the basis of treatment. Treatment with glucocorticoids can slow disease progression and improve motor function in the short term. The treatment may cause side effects, which must be monitored and which may require intervention. A not insignificant proportion of patients have cognitive and neuropsychiatric problems that must be addressed.

Active intervention in response to signs of respiratory or cardiac failure is important. More causal treatment of duchenne muscular dystrophy is under testing and offers cautious hope for future patients.

interpretation:

with improved treatment and increased life expectancy come new challenges for patients with duchenne muscular dystrophy and their families, as well as new demands on the support services. This patient group requires close and comprehensive follow up, also in the transition from child to adult. � minimize the delay between the generation and publication of research: articles undergo a streamlined peer review and are published immediately upon acceptance ● share ongoing research: plos currents specifically encourages short form articles of research in progress ● publish all your experimental results: get rapid feedback and immediate credit for work completed. Background: dysferlin is a sarcolemmal protein that is defective in miyoshi myopathy and limb girdle muscular dystrophy type 2b, and is involved in sarcolemmal repair.

Primary cultured myoblasts and myotubes established from patient muscle biopsies have been widely utilized to explore the molecular mechanism of dysferlinopathy. Objectives: the purpose of this study was to explore the possible utility of dermal fibroblasts from dysferlin deficient patients and sjl mice as a tool for studying dysferlinopathy. Methods: dysferlin protein expression in fibroblasts from dysferlin deficient patients and sjl mice was analyzed by immunoblotting and immunocytochemistry. The membrane wound repair assay was performed on the fibroblasts using a confocal microscope equipped with a uv laser.

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The membrane blebbing assay using hypotonic shock, in which normal membrane blebbing is detected only in the presence of dysferlin, was also performed using human and mouse fibroblasts. Results: mis sense mutated dysferlin was expressed at a very low level in fibroblasts from a dysferlinopathy patient, and lower expression level of truncated dysferlin was observed in sjl mouse fibroblast. Fibroblasts from patients with dysferlinopathy and sjl mice showed attenuated membrane repair and did not form membrane blebs in response to hypoosmotic shock. Proteosomal inhibitior increased mis sense mutated or truncated dysferlin levels, and restored membrane blebbing, however, proteosomal inhibition failed to improve levels of dysferlin with non sense or frame shift mutation. Conclusion: fibroblasts from dysferlinopathy patients and sjl mice showed attenuated plasma membrane repair, and could be a tool for studying dysferlinopathy.

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The performance of upper limb pul test was specifically developed for the assessment of upper limbs in duchenne muscular dystrophy dmd. The first published data have shown that early signs of involvement can also be found in ambulant dmd boys. The aim of this longitudinal italian multicentric study was to evaluate the correlation between the 6 minute walk test 6mwt and the pul in ambulant dmd boys. Both 6mwt and pul were administered to 164 ambulant dmd boys of age between 5.0 and 16.17 years mean 8.82. The scores on the pul largely reflect the overall impairment observed on the 6mwt but the correlation was not linear. The use of the pul appeared to be less relevant in the very strong patients with 6mwd above 400 meters, who, with few exceptions had near full scores. In patients with lower 6mwd the severity of upper limb involvement was more variable and could not always be predicted by the 6mwd value or by the use of steroids.

Our results confirm that upper limb involvement can already be found in dmd boys even in the ambulant phase. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. The muscle weakness slowly gets worse and symptoms can include: delayed development of muscle motor skills difficulty using one or more muscle groups drooling eyelid drooping ptosis frequent falls loss of strength in a muscle or group of muscles as an adult loss in muscle size problems walking delayed walking a physical examination and your medical history will help the doctor determine the type of muscular dystrophy. The doctor's exam may show: abnormally curved spine scoliosis joint contractures clubfoot. Clawhand, or others low muscle tone hypotonia some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or abnormal heart rhythm arrhythmias .

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This may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle appear larger. Despite knowledge of the underlying genetic causation and resultant pathophysiology from lack of dystrophin protein at the muscle sarcolemma, clinical intervention is currently restricted to symptom management. In recent years, however, unprecedented advances in strategies devised to correct the primary defect through gene and cell based therapeutics hold particular promise for treating dystrophic muscle.