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46:51
YouTube
Only Human
Rare Genetic Disorder Turns Muscle Into Bone: The Human Mannequin | Only Human
Teenager Louise Wedderburn has a rare genetic condition which is causing each of her joints to lock, as her muscle turns into bone. In spite of this she is determined to build a career in fashion. Will the notoriously image conscious fashion industry accept her, or will her extraordinary condition stand in her way? Only Human celebrates and ...
639.5K views
Jan 17, 2023
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#Fibrodysplasia ossificans progressiva FOP Symptoms
Fibrodysplasia ossificans progressiva (FOP) je vzácné genetické onemocnění, při kterém se svaly, šlachy a další měkké tkáně postupně přeměňují na kost. Tento proces, známý jako heterotopická osifikace, vede k postupnému tuhnutí těla a omezení pohyblivosti, což může pacienta nakonec upoutat na lůžko. FOP je způsobena mutací v genu ACVR1 a obvykle se projevuje už v dětství, přičemž jakékoliv poranění nebo chirurgický zákrok může zrychlit růst nadbytečné kosti. V současnosti neexistuje účinná léčba
Facebook
Feb 12, 2025
Fibrodysplasia Ossificans Progressiva, commonly called FOP, is an extremely rare genetic disorder in which muscle, tendons, ligaments, and other connective tissues gradually turn into bone. The condition is caused by a mutation in the ACVR1 gene, which disrupts normal bone growth signaling. Over time, this abnormal bone formation restricts movement and can lead to severe disability. FOP affects an estimated one in two million people worldwide, and there is currently no cure. Diagnosis is typical
Facebook
4 months ago
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