Perednik Healthy Life Info

Jakarta, When was born 13 years ago, Danielle Griffin is a very normal baby and the parents are elated because it tends to like girls. Daniella’s body began to show signs of age is not normal when coming three years.

Since then, Daniella body never grew tall. Hampered its development and he was trapped into a tiny human being because of pseudoachondroplasia result of gene mutation.

Danielle has a body that is smaller than 7-year-old sister. It has a 76.2 cm height for life. Pseudoachondroplasia disease makes her body can not grow high.

As quoted from TVthrong.co.uk, Monday (17/05/2010) doctors have been trying to make hormones and stretch his legs so he can have a normal body, but all efforts are in vain.

In the course of his life Danielle, has undergone various treatments that are sometimes brutal and hurt him. Yet she remains upbeat and optimistic, although many people who ridicule his condition.

Cases such as Daniella, many found all around us. Tiny human beings that exists around us is generally caused by patient pseudoachondroplasia gene abnormalities.

Pseudoachondroplasia disease is a severe genetic disorder and is characterized by disproportionately short body, the joints are super flexible, normal head size and body length of normal at birth. Someone with this condition are usually not diagnosed until the age of childhood.

This disorder was first described by Maroteaux and Lamy Dra in 1959 and is one of the 200 cases of a rare skeletal dysplasia. Dysplasia is a group of disorders due to problems with bone growth and formation.

Individuals with this disorder has the growth parameters (height and weight) of normal at birth, but not until the second year of life usually begin to experience growth delays.

During this phase, the body proportions are similar to individuals who have the disorder achondroplasia. Because of this similarity it is called with pseudoachondroplasia.

As quoted from Healthline, pseudoachondroplasia caused by mutations or changes in Cartilage oligomeric matrix protein 3 gene (COMP) located on the short arm of chromosome 19. This gene contains the instructions that tell the body how to form.

Seharusnya bases in these genes are arranged in a particular order that instructs the cell to form proteins. But because there is no mutation, the DNA sequence is a sequence and do not give a wrong code.

COMP gene mutations in autosomal dominant inherited. Every person has two genes COMP, which is derived from one father and one derived from the mother.

In autosomal dominant disorders, only a single gene mutation. Most individuals with pseudoachondroplasia born from parents with an average height. A 50 percent psuedoachondroplasia have the opportunity to lower the mutation of this gene to offspring.

This condition can cause complications such as arthritis, disorders caused by the weight on your joints and other orthopedic complications, such as increasing the risk of osteoarthritis at an early age (usually age-twenties) and low risk of neurological problems caused by spinal cord compression because of the weakness of the joints and abnormal spine structure .

Most people with pseudoachondroplasia hiding from the environment and limit their activities because not many public places that can match the size of his body.

Some people think that pseudoachondroplasia limited ability, whereas children or adults who have normal IQs level.

Pseudoachondroplasia experienced individuals with long bone shortening, so the average height of adults with this condition is approximately 80-130 cm. However, this individual has the features of a normal face and head.

To diagnose the necessary combination of physical examination, X-ray and molecular testing. Because the X-ray, the doctor can see some changes in the bone. While molecular testing (DNA) to search for gene mutations in COMP.

Until now there is no treatment for pseudoachondroplasia, treatment generally is to prevent osteoporosis, regulating body weight to burden not excessive and social adaptation.