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Fibrodysplasia ossificans progressiva Kaplan FS; Le Merrer M; Glaser DL; Pignolo RJ; Goldsby RE; Kitterman JA; Groppe J; Shore EMBest Pract Res Clin Rheumatol 2008[Mar]; 22 (1): 191-205Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft tissue injury, and immobility is cumulative. Recently, a recurrent mutation in activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor, was reported in all sporadic and familial cases of classic FOP, making this one of the most highly specific disease-causing mutations in the human genome. The discovery of the FOP gene establishes a critical milestone in understanding FOP, reveals a highly conserved target for drug development in the transforming growth factor (TGF)-beta/BMP signalling pathway, and compels therapeutic approaches for the development of small molecule signal transduction inhibitors for ACVR1/ALK2. Present management involves early diagnosis, assiduous avoidance of iatrogenic harm, and symptomatic amelioration of painful flare-ups. Effective therapies for FOP, and possibly for other common conditions of HO, may potentially be based on future interventions that block ACVR1/ALK2 signalling.|*Myositis Ossificans/diagnosis/diagnostic imaging/genetics/physiopathology/therapy[MESH]|Activin Receptors, Type I/genetics[MESH]|Animals[MESH]|Bone Morphogenetic Protein Receptors, Type I/genetics[MESH]|Bone Morphogenetic Proteins/genetics[MESH]|Disease Models, Animal[MESH]|Humans[MESH]|Mutation[MESH]|Ossification, Heterotopic[MESH]|Radiography[MESH]|Smad Proteins/genetics[MESH] |
