Published in:
Open Access
01-12-2011 | Poster presentation
FOP in South Africa: awareness leads to diagnosis
Author:
Christiaan Scott
Published in:
Pediatric Rheumatology
|
Special Issue 1/2011
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Excerpt
Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disorder (autosomal dominant)in which there is progressive ossification of skeletal muscle. The majority of affected persons represent new mutations for the determinant gene, ACVR1 the protein product of which acts to regultae Bone Morphogenic Protein expression.(1)FOP presents in early childhood, with painful , hard areas of ossification in the muscles of the back/neck and progressive limitation leading to immbobilisation of all joints by adulthood.Previously there were few reports of FOP from Africa.We recently reported on 3 patients from South Africa(2) and have in the last 18months diagnosed a further 6 patients. …