Muscular Dystrophy (Duchenne-type, DMD) GRMD
        
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General
        
            Disease Name
        
    
    
            Muscular Dystrophy (Duchenne-type, DMD) GRMD
            
        
        
        
            OMIA
        
    
    
            1081
            
        
        
        
            Gene Name
        
    
    
            DMD
            
        
        
        
            Mutation
        
    
    
            A>G intron 6 splice acceptor site
            
        
        
        
            Mutation 2
        
    
    
            c.7293+5G>T
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Muscular dystrophy refers to a group of more than thirty genetic conditions, causing a breakdown in the muscles involved with movement. This skeletal muscle disease is characterized by a progressive degeneration, leading to loss of muscle function and a weakness. Symptoms include: muscle stiffness, gait issues, muscle weakening, difficulty swallowing, progressive weakness, muscle atrophy and enlargement, difficulty swallowing - sometimes caused by a thickening tongue, loss of muscle mass, tremors, deformity of the limbs. Age of onset can be present from birth or very early in life, progressing with age. This condition usually affects males, though female cases have been documented and are often misdiagnosed. This progressive disease is normally fatal, or leads to euthanasia.
            
        
        
        
            Details 2
        
    
    
            Muscular dystrophy refers to a group of more than thirty genetic conditions, causing a breakdown in the muscles involved with movement. This skeletal muscle disease is characterized by a progressive degeneration caused by fibrosis leading to loss of muscle function and a weakness. Symptoms include: muscle stiffness, gait issues, muscle weakening, difficulty swallowing, progressive weakness, plantigrade stance, muscle atrophy and enlargement, difficulty swallowing, loss of muscle mass, tremors, deformity of the limbs. Age of onset can be present from birth or very early in life, progressing with age. This condition usually affects males, though female cases have been documented and are often misdiagnosed. This progressive disease is normally fatal, or leads to euthanasia.
            
        
        
        
            Published
        
    
    
            Sharp, N.J.H., Kornegay, J.N., Van Camp, S.D., Herbstreith, M.H., Secore, S.L., Kettle, S.A., Hung, W.Y., Constantinou, C.D., Dykstra, M.J., Roses, A.D. and Bartlett, R.J., 1992. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics, 13(1), pp.115-121.
            
        
        
        
            Published 2
        
    
    
            Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ.: A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647, 2010. Pubmed reference: 20072625. DOI: 10.1371/journal.pone.0008647
            
        
        
        
            Body/System/Process
        
    
    
            Muscular
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            XR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Golden Retriever
            
        
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