Osteogenesis imperfecta diet
OI type I is the most common and the mildest form of the disorder. Therefore, a negative type I collagen study does not rule out OI. Sleep Loss Tied to Changes in Gut Bacteria. In recessive OI, mutations in other genes interfere with collagen production. It is part of the framework that bones are formed around. Prevalence While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. OI may be a mild disorder or may result in severe complications. Colon Cancer on the Rise Among Young Adults. Asprin: The Wonder Drug in Your Medicine Cabinet. It is often, though not always, possible to diagnose OI based solely on clinical features. A positive type I collagen study confirms the diagnosis of dominant OI, but a negative result could mean that either a collagen type I mutation is present but was not detected or the patient has a form of the disorder that is not associated with type 1 collagen mutations or the patient has a recessive form of OI. Not all characteristics are evident in each case. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all type I collagen mutations. In dominant (classical) OI, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
Clinical Features The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family. It is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected. Four main types of OI have been identified. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. This is an abstract of a report from the National Organization for Rare Disorders (NORD). Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. When a type I collagen mutation is not found, other DNA tests to check for recessive forms are available. The severity of OI also varies greatly, even among individuals of the same family. Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The result in all cases is fragile bones that break easily. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. These tests generally require several weeks before results are known. The specific symptoms and physical findings associated with OI vary greatly from case to case. Video: Cancer Takes a Toll on a Small Town. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. A copy of the complete report can be downloaded free from the NORD website for registered users.
