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Muscular Dystrophy, Ullrich Type

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Muscular Dystrophy, Ullrich Type
Mutation
c.289C>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
Steffen, F., Bilzer, T., Brands, J., Golini, L., Jagannathan, V., Wiedmer, M., Drögemüller, M., Drögemüller, C., Leeb, T. : A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. G3 (Bethesda) 5:2611-7, 2015. Pubmed reference: 26438297. DOI: 10.1534/g3.115.021923.
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