ChannelMfm - Achondroplasia is one of the conditions that cause dwarfism and belongs to the group of disorders of bone growth. Patients with achondroplasia have arms and short legs. In addition to achondroplasia, a cause of dwarfism, among others, disorders of growth hormone and turner syndrome.
Of all cases of achondroplasia, 80 percent of whom do not occur due to hereditary, but genetic mutations are spontaneous. While 20 percent of which is inherited from parents who also experience this condition.
Patients with achondroplasia adults rarely reach a height of 152 cm. Average their height is about 124-132 cm.
When newly born, baby achondroplasia can be identified from physical symptoms, in the form of the stature of the body, legs, arms, and fingers seem short. Their heads also look bigger compared to the body, and the forehead prominent, and not normal. After entering the age of childhood and adult, physical patients with achondroplasia will seem clearer. In addition to the stature of a dwarf, the bones of the back and legs sufferers appear curved. They also trouble to bend the elbow fully.
Not only physical problems, some health problems are also at high risk experienced by patients with achondroplasia. When a baby, walking ability and some motor skills they tend to be slower. This is caused by a decrease in muscle tone. In addition, the baby achondroplasia is also at risk of developing spinal stenosis (the suppression of the spinal cord that contains the nerve due to narrowing of the spinal canal), hydrocephalus, and respiratory disorders apnea. When growing up, the condition of spinal stenosis who suffered can severe. In addition, children and adults patients with achondroplasia can suffer from ear infection periodically and the condition of obesity.
The cause of Achondroplasia
In the human body, there is a gene called FGFR3. This gene serves to the growth and maintenance of bones. Mutations in this gene cause disruption of the change of cartilage into bone. Bone growth is disrupted to make sufferers of this condition become a dwarf.
The Diagnosis of Achondroplasia
The only way to ensure a person affected by achondroplasia is through a genetic test to determine the presence of defects in the gene FGFR3. Even so, this test is not necessarily done by the doctor without putting suspicions. In children or adults, the suspicion of the doctor can be based on the stature of the body of the dwarf visible. And gene analysis is usually done through a blood sample.
While the time of pregnancy, the suspicion can be fueled on the shape of the large head seen from the results of the ULTRASOUND. Gene analysis is usually performed through the sampling of amniotic fluid in the uterus.
The treatment of Achondroplasia
Unfortunately up to now, there is no cure or treatment method anything that can cure achondroplasia. Handling is only intended to relieve complications that arise in patients with this abnormality, such as the application of operating procedures to deal with spinal stenosis and the administration of antibiotics to relieve ear infection.