Fibrodysplasia Ossificans Progressiva Research Paper

bone loss. (Maxwell 2013 para. 13) Osteoporosis is the major disease this can lead to.

Morquio syndrome makes your bones look abnormal or disfigured. They can be curved in the spine or any other part of the body. Also your heart and organs grow abnormally and eventually your heart or organs become too big for your body and you die. The liver and spleen are mildly enlarged also sometimes. The long bones in the legs and arms are usually shorter and thicker than a normal person. The skull is large for the rest of the body.

Osteoporosis is a detrimental bone condition, the tissue in the bones deteriorate and thus the bones become progressively brittle which presents a risk for rupture. Osteoporosis impacts more than 44 million Americans and is linked to a suggested 2 million bone fractures each year. According to the National Osteoporosis Foundation, the amount of fissures due to osteoporosis may escalate above 3 million by the year 2025. Osteoporosis is typically undetected and advances with slight warning signs until a fissure ensues. Effects of osteoporosis encompass height reduction and a curved upper back, anyone can have osteoporosis, however it is prevalent in elderly women and many may break a bone due to this condition. Recovery and prevention are vital in combating osteoporosis, though it may never be eradicated one can take measures to stabilize bone density and gain strength.

2). In addition, this disease causes death, short stature, blindness, and hearing loss. “Seventy percent of children with malignant infantile osteoporosis die by the age of six years, and almost 100 percent do not live to the age of 10 years” (Stocks et al., p. 2). The main cause of death is bone marrow failure, due to non-functioning osteoclasts. Some children will also have delays in muscle coordination, nerve compression, low levels of iron, crossed eyes, tooth decay, abnormal hardening of the bones, and fractures. (“Osteopetrosis,” 2008).

when the body loses too much bone, doesn’t make enough bone, or both. Because of

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

III.B: There has also been a chance of enlarged kidneys. There is also a risk of a enlarged heart. The enlarged heart will also cause you ventricles so become inflamed. In some cases they have noticed bones have stopped growing reducing your height and physical appearance

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone, forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. It usually becomes evident during early childhood, always starting with the neck and shoulders and proceeding down the body into the limbs.

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

FOP, also known as Fibrodysplasia ossificans progressiva, is a rare genetic condition. Approximately, there are about one in every two million births that get this rare disease. Sadly, a little boy named Josh was one in those 2 million births who received this rare disease. People’s lives are affected with this disease because it causes bone to form from soft tissue and usually by the victims 40s; it confines them to immobility before it takes their life. This is evident because of Dr. Snyderman’s facts, the symptoms of FOP, and how it is affecting him with just doing simple things.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Bone disease is a silent disorder that may lead to pain and deformity. (NCBI, paragraph 1). NCBI resources mention that1.5 million osteoporotic fractures in the U.S leads to more than half a million of hospitalizations, about 800,000 emergency room encounters, about more than 2,600,000 physician office visits, and about 180,000 individuals are placed into nursing homes. (NCBI, paragraph 2), Caring for fractures from bone disease is expensive, ranging from $12 to $18 billion per year in 2002 and will increase over the years causing individuals and their families a devastating impact. (NCBI paragraph3). Some die from bone disease, many spirals downward in their physical and mental health that result in death, especially during the first year after the fracture. (NCBI, paragraph 4). People who suffer from fractures experience severe pain, height loss, lose the ability to dress themselves, stand up, and walk causing them to be at risk of pressure sores pneumonia, and urinary tract infections. (NCBI, paragraph 5)