DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness. 22894145 2012
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype CTD_human Assessment of resveratrol, apocynin and taurine on mechanical-metabolic uncoupling and oxidative stress in a mouse model of duchenne muscular dystrophy: A comparison with the gold standard, α-methyl prednisolone. 26930420 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD). 19206170 2009
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the loss of the muscle protein, dystrophin, leading to progressive loss of muscle fibers and muscle weakness. 25975656 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy. 8352853 1993
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Duchenne muscular dystrophy (DMD), caused by the absence of the protein dystrophin, is characterized as a neuromuscular disease in which muscle weakness, increased susceptibility to muscle injury, and inadequate repair appear to underlie the pathology. 29067656 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system. 31359811 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE This case suggests that very low levels of DMD exon skipping and dystrophin protein expression may result in amelioration of skeletal muscle weakness, a finding relevant to current dystrophin-restoring therapies. 29305136 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Duchenne muscular dystrophy (DMD) affects 1:3500-1:5000 male births, and is caused by X-linked mutations in the dystrophin gene, manifested by progressive muscle weakness and wasting due to the absence of dystrophin protein, leading to degeneration of skeletal muscle. 29067667 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring. 28469083 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Abnormalities of dystrophin are a common cause of muscular dystrophy and testing for dystrophin gene or protein has become a part of routine diagnostic evaluation of patients who present with progressive proximal muscle weakness, high serum creatine kinase concentrations, and histopathological evidence of a dystrophic process. 11303236 2001
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. 26457695 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death. 23784375 2013
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE This technology has been tested in paralysed patients, such as those with cervical spinal cord injuries or amyotrophic lateral sclerosis, but it has not been tested systematically in Duchenne muscular dystrophy (DMD), which is a severe type of muscular dystrophy due to the loss of dystrophin and is often accompanied by progressive muscle weakness and wasting. 29379140 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. 9470882 1997
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE The loss of dystrophin expression is not limited to muscle weakness but has multiple systemic consequences. 30206270 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE We found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families. 17826093 2007
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE We report three cases who presented with only mild or no muscle weakness but had elevated serum creatine kinase activity and dystrophin immunolabelling indistinguishable from normal, making a pathological diagnosis difficult. 15488030 2004
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE We report here a case of dystrophinopathy in a 9-years-old boy with a 2-bp deletion in exon 74 of the dystrophin gene; however, the boy had no clear clinical signs of muscle weakness. 18430534 2009
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle. 25043804 2014
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. 29847600 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Complete loss of muscle dystrophin protein causes progressive muscle weakness and heart and respiratory failure, leading to premature death. 23521559 2013
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle. 2821406 1987
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE For the last 20 years, the major goal in the development of therapeutic approaches to alleviate muscle weakness in DMD has been centered on the restoration of dystrophin or proteins that are analogous to dystrophin, such as utrophin, through a variety of modalities including cell therapy, gene therapy, gene correction, and the highly promising techniques utilizing CRISPR/Cas9 technology. 27071500 2016