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Pathophysiology of Duchenne muscular dystrophy Current ..
A need exists for biomarkers to diagnose, quantify and longitudinally follow facioscapulohumeral muscular dystrophy (FSHD) and many other neuromuscular disorders. Furthermore, the pathophysiological mechanisms leading to muscle weakness in most neuromuscular disorders are not completely understood. Dynamic ultrasound imaging (B-mode image sequences) in combination with speckle tracking is an easy, applicable and patient-friendly imaging tool to visualize and quantify muscle deformation. This dynamic information provides insight in the pathophysiological mechanisms and may help to distinguish the various stages of diseased ...
Toe walking refers to the lack of heel strike during the stance phase of the gait cycle. It is a common variation of normal gait development in children. Persistent toe walking past 2 –3 years of age warrants further evaluation as toe walking can be associated with cerebral palsy, muscular dystrophy, and autism spectrum disorders. The diagnosis of idiopathic toe walking is a diagnosis of exclusion used for children with persistent toe walking and no associated medical condition . Despite variable pathophysiology, the treatment of toe walking has similarities across diagnoses as it is focused on the maintenance of ran...
News in Muscular Dystrophy - Distrofia Muscular …
• Dolichol-P-mannose (DPM) synthase is essential for alpha-dystroglycan O-glycosylation• DPM synthase is composed of 3 subunits (DPM1, DPM2, and DPM3)• DPM synthase mutations cause congenital muscular dystrophy with or without brain involvement• Mutations in DPM3 can cause isolated, mild lim b girdle muscular dystrophy (Source: Neuromuscular Disorders)
Duchenne muscular dystrophy (DMD) is a progressive and life-limiting X-linked recessive disorder caused by mutations in the DMD gene that result in reduced or absent dystrophin production. Dystrophin is part of the dystrophin –glycoprotein complex, which acts as a scaffold between the actin cytoskeleton and the extracellular matrix and, as such, maintains muscle fibre integrity. Absence of dystrophin causes progressive and irreversible tissue damage, resulting in muscle fibrosis and fatty replacement. (Source: LANCET)
Pathophysiology of Duchenne Muscular ..
We present 2 patients with Duchenne muscular dystrophy who exhibited different muscle responses to nerve stimulation during the performance of peripheral nerve blocks for surgeries. Whereas a 2-year-old boy without severe disability showed the expected muscle contraction to electrical nerve stimulation, a 14-year-old boy with severe disability showed no muscle response. Our experience suggests that muscle responses to electrical nerve stimulation will vary with the stage of Duchenne muscular dystrophy. (Source: A&A Case Reports)
Contributors : Daniel Kopinke ; Jeremy F ReiterSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusInjured skeletal muscle regenerates, but with age or in muscular dystrophies, muscle is replaced by fat. Upon injury, muscle-resident fibro/adipogenic progenitors (FAPs) proliferated and gave rise to adipocytes. These FAPs dynamically produced primary cilia, structures that transduce intercellular cues such as Hedgehog (Hh) signals. Genetically removing cilia from FAPs inhibited intramuscular adipogenesis, both after injury and in a mouse model of Duchenne muscular dystrophy. Blocking FAP ci...
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dystrophy, namely the mechanical hypothesis ..
The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C‐specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile‐onset generalized lipodystrophy due to a lamin C‐specific mutation. The proband, a 23‐year‐old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, develope...
PPT – Duchenne Becker Muscular Dystrophy …
CONCLUSIONS: This study indicates that the use of hand orthoses in Duchenne muscular dystrophy can delay development of contractures and improve passive wrist extension and thumb abduction. Hand orthoses can therefore be recommended for boys who start to develop contractures in the long finger flexors. Due to small sample size further studies are needed to confirm this result. Implications for rehabilitation Evaluation of hand orthoses in Duchenne muscular dystrophy. Preserved hand function is of uttermost importance for performance of activities in the late stages of Duchenne muscular dystrophy. Contractures of long finge...
Duchenne muscular dystrophy - Wikipedia
AbstractThe muscular dystrophies are rare orphan diseases, characterized by progressive muscle weakness: the most common and well known is Duchenne muscular dystrophy which affects young boys and progresses quickly during childhood. However, over 70 distinct variants have been identified to date, with different rates of progression, implications for morbidity, mortality, and quality of life. There are presently no curative therapies for these diseases, but a range of potential therapies are presently reaching the stage of multi-centre, multi-national first-in-man clinical trials. There is a need for sensitive, objective en...
Current research includes exon-skipping, ..
Duchenne muscular dystrophy (DMD) is an incurable, X-linked, progressive muscle wasting disease. Approximately one in 3500 live male births are affected. Diagnosis is made following identification of delayed motor milestones and unusual gait patterns. Investigation of serum creatine kinase (CK) levels will indicate if genetic testing is required. Diagnosis is made with a positive genetic test. Currently the average life expectancy in the UK for someone affected by DMD is 26 years. Decline in physical abilities begin in early/mid primary school years. (Source: Paediatrics and Child Health)
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