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. …show more content…
This disease can be crippling, practically turning patients who have it into “Statues” some patients are able to pick which position their limb will be froze in, but others can not because it can happen over night. Swelling under the the jaw can occur also affecting the patient's breathing and ability to eat, this can be fatal but Glucocorticoids can help reduce the
Intramembranous ossification is the process in which the flat bones of the cranium ad clavicles are made. This type of ossification is broken up into several different steps. In each of these steps, there are various types of cells that do unique things to aid in ossification. All of these different cells stem from one cell known as a Mesenchymal cell. This cell is a type of stem cell that can differentiate into all of the different connective tissue cells. Differentiation is a characteristic of these cells that allows them to transform into various cells during the growth process; this is aided by methylation. Methylation aids differentiation because it shuts down specific genes in the cells DNA which changes the shape and function and
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.
Ooi, C., & Fraser, W. (1997). Paget's disease of bone. The Fellowship of Postgraduate Medicine, 73, 69-74. Retrieved June 12, 2010, from the PubMed database.
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
The gene which is responsible for this disease, FGFR3, is located on chromosome 4 at 16.3, which is on the short arm near the telomere (4). Under normal circumstances, this gene forms fibroblast growth receptor 3 which interacts with a protein to begin a stream of signals that contribute to bone development and maintanence; it is also thought that this gene is also important in other tissue development (6, 7, 10-12). Some of the known pathways involved with FGFR3 are STAT1/3, STAT5, MEK1, ERK1, and MAP kinase signaling. Chondrogenesis and osteogenesis are two processes managed by these pathways and are greatly affected by a mutation (13-15). The sections of these pathways that involve and are affected by the mut...
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
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Osteoporosis is a condition, which advances with age, resulting in fragile, weak bones due to a decrease in bone mass. Externally osteoporotic bone is shaped like normal bone, however it’s internal appearance differs. Internally the bone becomes porous due to a loss in essential minerals, including phosphate and calcium. The minerals are loss more quickly than they can be replaced and in turn cause the bones to become less dense and weak. The bones become prone to fracture, due to their weakness. Therefore the awareness of the disease tends to occur after a fracture has been sustained. The bones most commonly affected are the ribs, wrist, pelvis and the vertebrae.
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.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Osteoporosis Osteoporosis is a systemic, debilitating disease of the skeleton, characterized by significantly decreased bone mass in combination with the deterioration of bone microarchitecture. Osteoporosis has three types of categories, the first category is type 1 which occurs in women after menopause and results from declining levels of estrogen and other sex hormones in the body, this could also occur in men due to low levels of the sex hormone testosterone. Type 2 is called Senile Osteoporosis, which occurs in elderly men as well as elderly women because of decreased bone formation due to aging. Type 3 is caused by long-term use of medication, usually with steroids and drugs, to treat elipsy. Osteoporosis, which literally means “Porous Bone”, is a disease in which the density and quality of bone are reduced (Kackowski, 2013).
The big picture. Where the two schools of medicine differ is in philosophy. Doctors of osteopathy "treat people, not just symptoms," says Karen Nichols, dean of the Chicago College of Osteopathic Medicine. "The course list looks exactly the same, but the M.D.'s focus is on discrete organs. The osteopathic focus is that all of those pieces are interrelated. You can't affect one with out affecting another." That means paying more than simple lip service to the idea of the "whole" patient: It means that diagnosis and treatment rely on an examination of a person's environment and family and general situation as well as his or her body. Not surprisingly, about 65 percent of the nation's 52,000 licensed osteopaths (by comparison, the country boasts at least 900,000 M.D.'s) are primary-care physicians. The American Association of Colleges of Osteopathic Medicine has a description of osteopathic training, as well as short profiles of 20 schools, at www.aacom.org. The D.O. programs and their contact information are listed in the directory section of this book.
Pain behind the ear on the affected side of the face which may occur a day or two before the paralysis begins.
Fractures are life-threatening to aged people having the metabolic bone disease OSTEOPOROSIS, in which bones become porous and brittle. A person, mostly women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of some bones, often results in bone deformity; in addition, some girls with this disease physically mature so early that they are capable of pregnancy and childbirth at the age of seven.
“John first took leftover prescription painkillers and numbed his left foot in ice water to reduce impending pain. He then buried his foot in dry ice for six hours to induce severe frostbite and force surgeons to operate” (Adams, 2007).