Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta Tarda – General Information

Osteogenesis Imperfecta Tarda consists in a set of processes which lead to several distinct kinds of dwarfism and appendage shortening. The most important cause is an imperfection in form I collagen chemical process which leads to ligament, skeletal, sclera, skin and dentin defectiveness. The collagen is produced in either large quantities or in very small ones. In what concerns most of the cases, the mutations are self-generated because of the autosomal contagion. Osteogenesis Imperfecta Tarda appears between 3 and 21,000 to 65,000 births and there are four different types which can develop:

• Type I: just about the mildest and common type. The child’s bones are fragile and they can break during delivery. Other problems associated: blue sclerae, loose joints, and brittle teeth. The structure of collagen is normal but the quantity is unusual.
• Type II: is the most dangerous type. In most of the cases, the child dies at birth because of the fracture of the fragile bones in the utero. The collagen levels are completely abnormal.
• Type III: this type develops fast and it gets worst as it progresses. It may cause fractures in utero, loose joints, spinal curvature, triangular face, short stature, barrel rib enclosure. The sufferer may survive until adulthood.
• Type IV: it is characterized by a small tendency to lead to hearing loss, bone deformity, short stature or abnormal sclera.

Osteogenesis Imperfecta Tarda is a rare illness but it can affect any person, no matter the race or the gender.

Osteogenesis Imperfecta Tarda – Symptoms

Osteogenesis Imperfecta Tarda is not constituted by a single group of signs and symptoms. The neurological problems which occurred in sufferers with the same malformations were highly different as the fragility is distinct from one patient to another. This means that the amount of breakages can differ from a couple to a few hundreds and there are involved all the conjunctive body parts not only those located in bones. Almost all the cases are related to a congenital osseous tissue malformation of the retral fossa. The clinical symptoms of Osteogenesis Imperfecta Tarda can be unexpected and brought about by insignificant trauma but the most common evolution is slowly and progressive. The most predominant symptom is the headache usually located in the occipital region and in the neck. Usually, headaches appear spontaneously and they are also released by movement and any other kind of exercise. In order to cut down the pain and the discomfort you are advised to keep your head in a certain position for a few minutes. The headaches are probably to appear when you wake up in the morning and you will also experience sneezing, coughing. Another serious symptoms that this disease can develop are: scull deformities, curvature of spine, legs and arms, small stature, triangular face, severe laxity of the articulations, hearing loss, easy bruising, heart insufficiency, tiredness, sweating. The physical problems can get so bad that you may need to use a wheelchair. In addition, it is extremely stressful that you cannot know for sure if you are affected by this disease.    

Osteogenesis Imperfecta Tarda - Treatment

During the discussions of the original basilar impression, specialists concluded that for a disease which is congenital the symptoms develop rather late, in the adolescence and not in the childhood as expected. The cause may be the fact that the organic process of growing plays some extremely important parts; these are also supposed to aggravate the disorder. The exact incidence of basilar impression is not discovered yet but studies are conducted in order to find out more information. Usually, none of the patients diagnosed with the first type of the disease develop signs of abnormal neurological symptoms and those with the fourth type there is a sporadic basilar impression. Because of al these results, it is extremely difficult to find the right treatment for this disorder.

Because of the fact that Osteogenesis Imperfecta Tarda develops in an unexpected way it is impossible to generalize the medical prognosis of a patient. Each person who suspects that he may suffer of this disorder should see a doctor especially because the fragility of the bones is diminished after adolescence. Prospering surgical treatment with separation of the point of the lairs was applied to some patients and the doctors noticed an improvement in the signs and symptoms. As soon as the basilar appearance is set up the metric relation from the cranial base to the dens is less important than the multidimensional anatomy. In this case, the symptoms of Osteogenesis Imperfecta Tarda are improved and they show sure signs of progress. Even though, the cause of Osteogenesis Imperfecta Tarda is not expected to be eradicated in the next few years. At this moment, specialists say that it cannot be cured but useful treatment can improve the patients’ condition.

Cures are considered to reduce the influences of the symptoms and to prevent any further complications. This idea results in a complete management plan created by your personal doctor who will also supervise you during the period of the treatment. This plan of improving Osteogenesis Imperfecta Tarda includes: orthopedic treatment of the breakages of the bones, dental intervention, hearing improvement, physiotherapy, genetic improvements, psychological assistance, DNA testing, dietary advice and social advisory. You can also be suggested to use some special equipment like wheelchairs or crutches. Special attention should be given in order to prevent osteoporosis because the sufferers of Osteogenesis Imperfecta Tarda are more vulnerable to this particular disorder. Another way of treating this disease is the administration of certain drugs but this theory is still not completely tested.  Despite of the limitations that this disease imposes, the sufferers can live a joyful life as important members of the society and they can even start a family. There are a number of cases when patients choose to live an independent life and they have promising careers and an active social life. On the other hand is vital for sufferers to join a support group in order to exchange information and experience with other people who deal with the same problems. This will make them feel less different from the others around them.