Systems AffectedFibrodysplasia Ossificans Progressiva (FOP) is a disorder where muscle and connective tissue such as tendons and ligaments are gradually replaced by bone, which constrains movement. Usually starts in childhood in the neck and shoulders and proceeds down the body throughout life. It is caused by a mutation of a gene for a receptor called ACVR1 in the bone morphogenetic protein-signaling pathway.
SymptomsDeformed big toes are a sign that helps to distinguish FOP from other diseases. Other symptons that derive from FOP are:
DiagnosisEasily diagnosable by the deformed big toes or thumbs. Little knowledge of the disease has been the fault for many misdiagnosis, resulting in biopsy tests or medical interventions which has caused those infected to become further immobile.
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Treatment
Life ExpectancyFOP occurs more and more as the years go on. The bone build up makes it continuously harder to move and function normally as life goes on. While most do not live the age of 40, many patients live to their forties or sixties and usually die due to cardiorespiratory failure from thoracic insufficiency syndrome and pneumonia.
Case StudyCase study of a nine-year-old girl with symptoms of FOP
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