Connective Tissue and Muscle
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Connective Tissue and Muscle conditions
Becker Muscular Dystrophy (BMD)Becker Muscular Dystrophy (BMD) is a genetic muscle disorder caused by dystrophin deficiency, leading to progressive muscle weakness and cardiomyopathy.Duchenne Muscular Dystrophy (DMD)Duchenne Muscular Dystrophy (DMD) is a severe X-linked disorder caused by dystrophin gene mutations leading to progressive muscle degeneration and weakness.Ehlers-Danlos Syndrome (Classical Type)Classical Ehlers-Danlos Syndrome is a connective tissue disorder marked by skin hyperextensibility and joint hypermobility due to collagen defects.Ehlers-Danlos Syndrome (Hypermobility Type)Ehlers-Danlos Syndrome hypermobility type is a connective tissue disorder marked by joint hypermobility and chronic musculoskeletal pain due to collagen defects.Ehlers-Danlos Syndrome (Procollagen Peptidase Deficiency)Ehlers-Danlos Syndrome with procollagen peptidase deficiency causes defective collagen processing leading to skin hyperextensibility and joint hypermobility.Ehlers-Danlos Syndrome (Vascular Type)Ehlers-Danlos Syndrome vascular type is a connective tissue disorder causing fragile blood vessels and risk of arterial rupture due to COL3A1 mutations.Marfan SyndromeMarfan Syndrome is a genetic disorder affecting connective tissue, causing tall stature, long limbs, cardiovascular abnormalities, and lens dislocation.Myotonic DystrophyMyotonic Dystrophy is a genetic disorder causing progressive muscle wasting and weakness, myotonia, cataracts, and cardiac conduction defects due to CTG repeat expansion.Osteogenesis ImperfectaOsteogenesis Imperfecta is a genetic disorder causing brittle bones due to defective type I collagen synthesis, leading to frequent fractures and bone deformities.