1. Stone Man Syndrome Aml Banni Basma Almesmary

2. Introduction Fibrodysplasia ossificans progressiva (FOP), is a rare genetic disease of the connective tissue. -A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. - This condition is inherited in an autosomal dominant pattern. - Most cases result from new mutations in the gene. (no history of the disorder in their family).

3. What happens? Through endochondral ossification, undifferentiated cells in tendons, ligaments and muscles form bone and restrict movement of patient until finally the patient is imobile. Bones formed in FOP are no different from normal bone. It's normal bone, but in the wrong place at the wrong time. This is called heterotopic ossification.

4. Demographics affecting 1 in 2 million people.affecting 1 in 2 million people. No ethnic, racial, or gender patter.No ethnic, racial, or gender patter. 800 confirmed cases across the globe.800 confirmed cases across the globe.

5. Cause Mutations in the ACVR1 geneMutations in the ACVR1 gene The (normal) ACVR1 gene  produces a member of a protein family called bone morphogenetic protein (BMP) receptors. The ACVR1 protein is found in many tissues of the body . It helps to control the growth and development of the bones and musclesThe (normal) ACVR1 gene  produces a member of a protein family called bone morphogenetic protein (BMP) receptors. The ACVR1 protein is found in many tissues of the body . It helps to control the growth and development of the bones and muscles It’s believed that a mutation in the ACVR1 gene may change the shape of the receptor disrupting the mechanisms that control the receptor's activity. Result, the receptor may be constantly activated  causes overgrowth of bone and cartilage and fusion of joints.It’s believed that a mutation in the ACVR1 gene may change the shape of the receptor disrupting the mechanisms that control the receptor's activity. Result, the receptor may be constantly activated  causes overgrowth of bone and cartilage and fusion of joints.

6. Symptoms and characteristics Early symptoms: -Characteristic malformations of the great toe -Large lumps on patients neck and back termed: fibrous nodules. -Flare-ups: (appearance of fibrous nodules) occur spontaneously (doctors don’t know why) or following bodily trauma such as: childhood Immunizations, falling bruised, viral illnesses. (Body repair mechanism)Early symptoms: -Characteristic malformations of the great toe -Large lumps on patients neck and back termed: fibrous nodules. -Flare-ups: (appearance of fibrous nodules) occur spontaneously (doctors don’t know why) or following bodily trauma such as: childhood Immunizations, falling bruised, viral illnesses. (Body repair mechanism)

9. Progression of the disease -Eventually, people with FOP will probably lose most of their mobility. Joints lock, and bones can twist into odd positions. -The body remains in the position in which it has been ossified. Progression of the disease -Eventually, people with FOP will probably lose most of their mobility. Joints lock, and bones can twist into odd positions. -The body remains in the position in which it has been ossified.

11. Complications Some people with FOP develop scoliosis, and their spine twists.Some people with FOP develop scoliosis, and their spine twists. ossification of the chest muscles  difficulty breathing.ossification of the chest muscles  difficulty breathing. malnutrition from ossification of mastication muscles and jaw.malnutrition from ossification of mastication muscles and jaw. many patients develop pressure sores from being bed ridden. as body usually ossifies in certain position and stays this way for life.many patients develop pressure sores from being bed ridden. as body usually ossifies in certain position and stays this way for life.

12. Treatments: Medicinal:- There isn't any real proven medicinal treatment for FOP. Doctors use medications to treat the symptoms. Such as: Corticosteroids like prednisone. Corticosteroids help decrease inflammation and swelling. (early stage) Corticosteroids like prednisone. Corticosteroids help decrease inflammation and swelling. (early stage) NSAIDs also reduce inflammation. NSAIDs also reduce inflammation. Aminobiphosphonates are anti-angiogenic, they prevent the formation of blood vessels and prevent bone growth to an extent. Aminobiphosphonates are anti-angiogenic, they prevent the formation of blood vessels and prevent bone growth to an extent. Thalidomide is also an anti-angiogenic and it appears to modify immune system responses. Thalidomide is also an anti-angiogenic and it appears to modify immune system responses.

13. Only medicinal are relieving in long term. Any attempt to remove the extra (or heterotopic) bone surgically only leads to more bone formation as the body attempts to repair the damage by generating more bone.

14. Possible future treatments new medications to block the overactive receptor that triggers bone formation in FOP.

15. Sources: http://health.howstuffworks.com/diseases-conditions/musculoskeletal/fop.htm http://health.howstuffworks.com/diseases-conditions/musculoskeletal/fop.htm http://health.howstuffworks.com/diseases-conditions/musculoskeletal/fop.htm http://www.ifopa.org/ http://www.ifopa.org/ http://www.ifopa.org/ http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva http://www.newmoonnaturalfoods.com/ns/DisplayMonograph.asp?StoreID=9F623QASQ BSR2L1C0G03N0ET9MQD62W2&DocID=condition-fibrodysplasiaossificans http://www.newmoonnaturalfoods.com/ns/DisplayMonograph.asp?StoreID=9F623QASQ BSR2L1C0G03N0ET9MQD62W2&DocID=condition-fibrodysplasiaossificans http://www.newmoonnaturalfoods.com/ns/DisplayMonograph.asp?StoreID=9F623QASQ BSR2L1C0G03N0ET9MQD62W2&DocID=condition-fibrodysplasiaossificans http://www.newmoonnaturalfoods.com/ns/DisplayMonograph.asp?StoreID=9F623QASQ BSR2L1C0G03N0ET9MQD62W2&DocID=condition-fibrodysplasiaossificans http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva