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Fibrodysplasia ossificans progressiva essay
Fibrodysplasia ossificans progressiva essay
Fibrodysplasia ossificans progressiva essay
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Fibrodysplasia Ossificans Progressiva
Introduction
The skeletal system protects the internal organs and soft tissues and is the structural framework that gives the body its shape. The skeletal system is composed of four parts: bones, cartilage, tendons, and ligaments. The skeletal system provides support, protection, allows body movements, stores minerals and fats, and is the site of blood cell production (Seeley, Stephens, & Tate, 2008). The appropriate development of the skeletal system allows an individual to walk, stand, pick up a pencil, and do everyday activities that involve movement and support. An individual without the appropriate development of the skeletal system will have difficulty performing everyday activities that require movement.
Skeletal Disorder
Fibrodysplasia Ossificans Progressiva and causes
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
Prevalence
Fribrodysplasia Ossificans Progressiva is very rare and only happens in 1...
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... perform these activities.
Fibrodysplasia Ossificans Progressiva affects most part of the skeletal system, mainly jaw, hips, ankles, wrists, keens, elbows, chest, shoulder, spine and neck. Most of these parts of the skeletal system are part of the joints that help with movement and connect bones (Seeley et al., 2008). As consequence, the individual loses the ability to move or not move at all. FOP does not affect cognitive development; an individual with this disorder has the same intelligence as any other individual. However, as I mentioned it before they cannot perform everyday activities and need assistance for almost everything. As the disorder progresses individual start to lose movement of their appendicular and axial skeleton. The new solid bone growth makes it impossible to have flexibility in the joint and limbs. Individual are trapped on their own body.
Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypermobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS, the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well.
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.
The three functions of the skeletal system are to support, to allow movement, and to protect. The skeleton is the framework of the body and also cradles its soft organs, with it the body would be just a jelly mass it wouldn’t have no definite shape and would just collapse. It supports the softer tissues and provides points of attachment for more skeletal muscles to hold all of the parts of the body upright. For example, the bones of the legs as pillars to support the body trunk we stand up. It also supports the body against the pull of gravity. The skeletal allows movement. The skeletal muscle attached to the bones by tendons and uses the bones as a simple mechanical lever system to move the body and its parts. All together with the muscles
Hypophosphatasia is a rare genetic bone disorder characterized by osteoblast hyperactivity and bone remodeling with loss of, or incomplete, mineral deposition. It is comparable to osteomalacia and rickets, but maintains a unique set of characteristic identifiers (Mornet 2008; Brickley and Ives 2008). Also called, Rathbun’s Syndrome, hypophosphatasia can be autosomal dominant or autosomal recessive depending on the individual. Severe forms are usually transmitted as autosomal recessive with a recurrence risk of 25 percent, while milder forms can be transmitted as either autosomal dominant or autosomal recessive, with between 25-50 percent recurrence rates (Mornet 2008). Hypophosphatasia has an incidence rate of 1 in 100,000 live births (Brickley and Ives 2008; Wendling et al. 2001). In half of all cases, the condition is fatal.
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Achondroplasia is a genetic bone growth disorder. It is the most common form of disproportionate short stature, dwarfism. It occurs in one in every 15,000 to 40,000 births. The disorder is inherited in an autosomal dominant manner, but over 80% of cases are spontaneous mutations. The risk is increased with advanced parental age. Achondroplasia generates from a mutated FGFR3 gene. Unfortunately this disorder cannot be cured, but research is being dedicated to finding a cure. (Learning about Achondroplasia, May 11, 2012)
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).
The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
Osteogenesis imperfecta (OI) is commonly known as the brittle bone disease. Unlike most ailment, osteogenesis imperfecta is a rare disease that caused by genetic mutation. This certain disease cause the bones to be extremely fragile and fracture easily with little or no physical force, thus the common name “brittle bone.” Besides weak and fragile bones, people who have osteogenesis imperfecta have weak muscles and bone deformities. Osteogenesis imperfecta is not a simple genetic disease that have few symptoms; it have eight different types in which each type have different signs and symptoms. Type I, II, III, and IV are the most common type of osteogenesis imperfecta, the other four types, according to the website
Fibrodysplasia Ossification Progressiva, or more commonly known as “Stone Man’s Syndrome” because it turns the person into a “Statue”. It is a disorder in which the “soft connective tissue progressively turns to bone.” It is a very rare, and painful disorder. It affects about one person out of 2 million, it is so rare that it can sometimes even be misdiagnosed for other diseases and disorders. Some disorders that FOP is mistaken for would be Juvenile Fibromatosis, Lymphedema, or soft tissue sarcomas. Since it is commonly misdiagnosed, it is also mistreated, and can lead to even more harm for the patient. Because flare-ups can occur with “Muscle or connective tissue trauma, Intramuscular vaccinations, dental work, bumps, bruises or even falls.” The cause of this disease is believed to be “linked to a mutation in activin receptor IA/activin-like kinase 2 (ACVR1/ALK2) a bone morphogenic protein (BMP) type I receptor.
Although your teeth are also considered part of your skeletal system, they are not counted as bones. Your teeth consist of enamel and dentin. Enamel is the strongest substance in your body. The main priority of the skeletal system is to provide support for the body. Without bones our body would be in a pile of guts and mush on the floor. Your skeleton furthermore assists to protect your internal organs and fragile body tissues. The brain, eyes, heart, lungs and spinal cord are all sheltered by your
In this paper I will clarify the relation between the integumentary system and the skeletal system. During this paper I will address how the two systems work together to maintain homeostasis and what occurs when balance is not maintained between the integumentary and skeletal system. During this paper I will explain how osteoporosis is directly linked between both the integumentary and skeletal system and ways to prevent or yield this disease.
Osteogenesis Imperfecta (OI) is a genetic disorder that is characterized by bones that get broken or get fractured easily. The term “Osteogenesis Imperfecta” indicates imperfect bones formation. It is caused by a gene defect in the production of collagen, a major protein of of the body’s connective tissue which make our bones strong.
The Skeletal System, also known as the Skeleton make up a framework that support the body and protect the organs. The Skeleton consists of the bones and joints of the body. In the human body there is 300 bones at birth, these then fuse together to make 206 bones in a fully grown adult. The Skeleton is made up of two divisions: The axial and appendicular Skeleton.