Fibrodysplasia ossificans progressiva

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    Fibrodysplasia ossificans progressiva (FOP) or the stone man syndrome is a disorder in which the muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone. The extra skeletal bone formation causes the person loss of mobility as the joint become affected. Overtime the person affected with FOP has difficulty difficulties breathing, speaking, and eating. Due to their eating problem they may experience malnutrition. Signs and symptoms of FOP can be observed as early as the birth of the person. Malformation of the person’s toes (short, bend and sometimes curves inward) at birth, can be an early sign for doctors to diagnose FOP. Another signs that children present at early state is scooting on their buttocks rather than crawl on their hands and knees. Most of the children have this sign because the facet joints in the back of the neck haven’t formed properly, which can limited movement of the children. Bone formation begins during the first two decade their of life.…

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    Fibrodysplasia Ossificans Progressiva The human body is a remarkable structure! Physicians and scientists around the world have been fascinated by its intricate systems for centuries. Fibrodysplasia ossificans progressiva, also know as FOP, has been of peculiar interest to those who have happened to stumble upon it. FOP is a condition in which soft tissue permanently transforms into bone over time. This abnormal growth is not limited to a particular area of the body but forms in muscles, tendons…

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    Encephalitis Lethargica (EL) and Fibrodysplasia Ossificans Progressiva (FOP) are both disorders that affect a certain bodily System. Bodily Disorders can upset homeostasis and cause problems with even the most normal functions that the body performs. EL and FOP are two such disorders that can wreak havoc on the body and severely inhibit a person's ability to function regularly. Encephalitis Lethargica and Fibrodysplasia Ossificans Progressiva are disorders of the…

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    1. What is FOP? Fibrodysplasia Ossificans Progressiva is a rare genetic disease in which a person’s bones will begin to form into the muscles, tendons, ligaments, joints and connective tissues. Overtime the development will restrict a person’s movement. It has been described as turning a person into stone because their body is essentially encased by a second skeleton. 2. What are the initial symptoms? Symptoms of Fibrodysplasia Ossificans Progressiva, include: an infant being born with short,…

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    Stone Man Syndrome A. Introduction Fibrodysplasia Ossificans Progressiva (FOP), also known as ‘Stone Man Syndrome’, is an extremely rare genetic disorder which affects as little as 1 in 2 million people without ethnic, racial, gender, or geographic predilection (www.iofbonehealth.org). The median life span of someone with FOP is reduced to 40 years due to the debilitating nature of the disorder, with death usually being caused by the complications of thoracic insufficiency syndrome in the later…

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    of bones where it shouldn’t be present can cause many difficulties in the body’s ability to perform natural movements. Fibrodysplasia Ossification Progressiva (FOP) is an extremely rare autosomal dominant disease in which the muscles, ligaments, and tendons progressively transform into bone (Kaplan, Nassau, & Shore, 2014). This formation of new bone forms outside the natural skeleton structure (See figure 2, Page 6), making this excess bone completely unnecessary and therefore harmful. Despite…

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    collagen testing from skin and or DNA sequencing from a blood sample, may confirm a clinical diagnosis. Other tests include a collagen biochemical test, collagen molecular testing, testing for recessive OI. Both the collagen biopsy and DNA test are thought to detect almost 90% of all type l collagen defects. There is no cure for OI. There are ways to manage the symptoms. The goal of treatment is to minimize fractures and manage symptoms. There is medication given to help strengthen the bones.…

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    Fibrodysplasia Ossificans Progressiva, or Stone Man’s Disease, is a disorder in which muscle tissue and connective tissue, such as tendons and ligaments, are replaced by bone outside the skeleton when the tissue is wounded. When the extra bone grows over the necessary bone, precise movements are restrained, such as bending the elbow, and rotating the neck. FOP is an inherited disease that progresses over time, hence “Progressiva,” and never gets better. For this disease, there is no cure, only…

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    It is stupefying to imagine how many diseases actually exist in our small section of the universe. It’s even more stupefying to understand how many diseases can take place in each of our body systems. The possibilities are remarkably infinite. Two of a never-ending amount of diseases that could end up creeping their way into a victim’s body are fibrodysplasia ossificans progressiva and aphasia. Fibrodysplasia ossifcans progressiva (FOP) is a skeletal system disease in which muscle tissue and…

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    Pompe disease is a rare, inherited, genetic disorder. The disorder is a result of a malfunctioning enzyme that does not properly break down glycogen in the body’s cells. As a result, glycogen builds up in the organs and muscles impairing their function. Pompe disease can be directly linked to mutations in the GAA gene. The GAA gene aids in the production of the enzyme, acid maltase, which is found in the lysosomes. Lysosomes act as a the recycling center for the cell and acid maltase’s job…

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