Osteogenesis Imperfecta Osteogenesis Imperfecta is a rare hereditary disorder that affects the connective tissue and causes extremely brittle bones which are in turn easily broken and deformed. There are multiple subdivisions of the disorder, ranging from Type I, Type II, Type III, and Type IV. Although the subdivisions go by number, the most serious and dreaded is Type II, which is also classified as Vrolik Disease. The symptoms could range from a very mild case, or a very severe case with multiple complications.
Usually, Osteogenesis Imperfecta is inherited as autosomal dominant traits, but in some cases, it is otherwise. A common form of the disease is Type I, which does not result in the severe complications and is the most mild out of the four major subdivisions of the disease (“Osteogenesis Imperfecta”). Although there are four main types of Osteogenesis Imperfecta, the most common and most mild version of the disease is classified as Type I. Like other versions of the disease, the main consequence of Type I is easily fractured bones.
Since is the mildest version, most fractures occur before reaching puberty, but can sometimes occur to women when they enter the menopause phase. A unique part of this subdivision is that it can cause curvature of the spine also known as Scoliosis. The face is also affected by having a triangular face, blue sclera, and a lot of dental problems. The disease can also cause hearing loss by the time they are in their 20s or 30s. Another similarity it shares with the other subdivisions of the disease is that it runs in the family.
Type I is also known as Lobstein Disease (“Osteogenesis Imperfecta-Bone Diseases and Disorders”). Type II affects only 10% of the people with Osteogenesis Imperfecta, but it is the most severe and most deadly. People who have this disease have extremely fragile bones and are prone to deformities. The cause of this is a genetic mutation is that a collagen is deformed. Most people who receive the disease are lucky to survive being an infant because that is when the disease is most threatening. It is also common for deaths to occur in the womb.
Another name for Type II of OI is Vrolik Disease (“Osteogenesis Imperfecta: Also Known As OI”). The subdivision of the disease that is most associated with underdevelopment and is not as known for fractures past birth is Type III. This subdivision is closely associated with Type I because they have very similar symptoms including bluish sclera, Scoliosis, early fracturing, and hearing loss. The difference between the two is that Type III often causes a much smaller stature, which can stretch the extreme of only three feet tall.
Also, muscles are generally underdeveloped with very loose joints. This combination makes it extremely difficult to be active because of muscle fatigue and joint pain. Hearing loss can happen very early in life, compared to Type I which hearing loss is a symptom around their 20s and 30s. If X-rays are taken before the birth, they can often show fractures that are healing while inside the uterus. A common defect from the fractures is the formation of a barrel shaped ribcage, which cannot properly protect the vital organs (“My Child Has… Osteogenesis Imperfecta”).
The subdivision with possibly the most spontaneity is Type IV, because the symptoms vary so much. Common symptoms are a curved spine, with most of their fractures before they reach puberty and really loose joints. The varying symptoms include either almost normal or normal looking sclera, hearing loss could occur, and teeth could be affected or they could remain normal. A common link to the other types is that it seems to run in the family, which could make it easier to trace it and forewarn the patient’s family of the possible complications the child could endure throughout their life.
As with other forms of the disease, the bones generally do most of their fracturing before the child reaches puberty (“UAB Health System – OI”). Although Osteogenesis Imperfecta could potentially be deadly, a good amount of individuals can live a healthy, and full-filling life. With treatment, it is definitely possible for them to have as much as an independent life as possible. Treatment is usually made up of physical therapy to relieve the underdeveloped muscles and to sooth the fractures that can occur on the bone. Along with physical therapy, they have biochemical testing, genetic counseling, x-rays, and bone density measuring.
Braces and supports are also ways that give the option, if possible, for a patient to be able to roam around as freely as they are able to without causing harm to themselves. All these help predict and treat what could be upcoming in the lives of patients of Osteogenesis Imperfecta (“The Osteogenesis Imperfecta Clinic”). Since OI runs in the families of the individuals with it, it is really hard to prevent it considering there has not been a cure for it, but there are ways to find it. With the current technology available, doctors are able to x-ray a fetus inside the uterus to see if there are any fractures present.
Usually, when the doctors can spot them, they are healing, but it is still a good outlook upon what that baby’s future could look like. The average OI patient has around 40 bone fractures in their lifetime, so if the baby gets many fractures in a row, it could be a possible hint toward the conclusion that the child has Osteogenesis Imperfecta (“Bone Diseases – Osteogenesis Imperfecta”). There have been many attempts at trying to find a cure for the disease, and a very recent idea is to target the gene causing it.
This works by using stem cells to target all the mutant collagens very early in the gene creating process allowing enough time for a normal collagen to be able to be created. This along with other advances in the genetic cures brings a positive outlook on the future. There has certainly been a lot of progress over the last decade or so with the advances in modern technology, hopefully that will live up to it’s full potential and aide in the research of many diseases that cause so much hardship and suffering in so many lives (“The Osteogenesis Imperfecta Foundation”).
Works Cited: “Osteogenesis Imperfecta. ” WebMD Children’s Health Center – Kids health and safety information for a healthy child. 3 Jan. 2007. WebMD. 03 Feb. 2009 . “Osteogenesis Imperfecta-Bone Diseases and Disorders. ” University of Maryland Medical Center. 11 Feb. 2009 . Osteogenesis Imperfecta Foundation:. 11 Feb. 2009 . “MedlinePlus: Osteogenesis Imperfecta. ” National Library of Medicine – National Institutes of Health. 11 Feb. 2009 . “Osteogenesis Imperfecta. ” Cleveland Clinic. 11 Feb. 2009