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Marfan syndrome is named after Antoine Marfan, [11] the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. [ 12 ] [ 77 ] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. [citation needed]
Particular interests include the basic biology of satellite and muscle stem cells, excitation-contraction coupling, muscle metabolism, and adaptation of muscle to exercise. The programs address a need for translational research to develop discoveries that enhance treatment and improve management of muscle and musculoskeletal diseases and ...
These guidelines provided physical activity recommendations for people aged six years and older, including those with many chronic health conditions and disabilities. The science-based Guidelines recommend a total amount of physical activity per week to achieve a range of health benefits. In 2018, HHS released an update to the first set of ...
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
The syndromic variant may occur with greater frequency in individuals with Ehlers-Danlos syndrome, Marfan syndrome, [24] Loeys–Dietz syndrome, [23] Williams–Beuren syndrome [25] [23] or polycystic kidney disease. [26] Other risk factors include Graves' disease [27] and chest wall deformities such as pectus excavatum. [28]
However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers–Danlos syndrome, Down syndrome, Klippel–Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta, and other medical conditions. [1] [2]
Marfan syndrome with or without aortic regurgitation [ 42 ] In individuals who require an artificial heart valve , consideration must be made for deterioration of the valve over time (for bioprosthetic valves) versus the risks of blood clotting in pregnancy with mechanical valves with the resultant need of drugs in pregnancy in the form of ...