Search results
Results From The WOW.Com Content Network
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Myositis ossificans comprises two syndromes characterized by heterotopic ossification (calcification) of muscle. In 2020, the World Health Organization classified myositis ossificans together with fibro-osseous pseudotumor of digits as a single specific entity in the category of fibroblastic and myofibroblastic tumors .
In 2006, Shore and Kaplan published their findings on the genetic mutation that causes FOP [5] as a paper entitled "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". [6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene. [5]
Fibrous dysplasia is a very rare [2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, pain, and the impingement of nerves. [ 3 ]
In 2006, Shore and Kaplan discovered the cause of FOP, publishing their findings as "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". [6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene. [7]
While knockout models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons, and ligaments. [7] It is a bone morphogenetic protein receptor, type 1.
Related: Toddler Ends Up in ICU After Strep A Infection Is Dismissed as 'Just a Fever' According to the CDC, "Group A strep bacteria can cause many different types of infections that range from ...
The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research, education and communication for those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP). IFOPA's mission is to fund research to find a cure for FOP while ...