ACHONDROPLASIA - Symptoms, Causes, Diagnosis And Treatment

Understanding Achondroplasia

Achondroplasia is one of the conditions that cause dwarfism or short stature and includes a group of disorders of bone growth. People with achondroplasia have short arms and legs. Besides achondroplasia, causing dwarfism Among other disorders of growth hormone and turner syndrome.
Of all cases of achondroplasia, 80 percent of whom did not occur due to heredity, but the spontaneous genetic mutation. While 20 percent of them are inherited from parents who also have this condition.
Adult patients with achondroplasia seldom reach a height of 152 cm. Their average height is about 124-132 cm.
ACHONDROPLASIA - Symptoms, Causes, Diagnosis And Treatment

When newborn babies achondroplasia can be recognized from the physical symptoms, such as body posture, legs, arms, and fingers seem short. Their heads appear larger than its body, and forehead stood out not normal. Upon entering the childhood and adulthood, people with achondroplasia physical will appear more clearly. Besides dwarf, spine and legs of patients appear to curve. They are also difficult to bend the elbow fully.
Not only physical problems, some of the health problems experienced by the patient is also very risky achondroplasia. When the baby, the ability to walk and some of their motor skills tend to be slower. It is caused by a decrease in muscle tone. In addition, babies achondroplasia are also at risk of spinal stenosis (suppression of the spinal cord which contains the nerve due to a narrowing of the spinal canal), hydrocephalus and obstructive respiratory disorders. When it gets older, suffered spinal stenosis condition may worsen. In addition, children and adult patients with achondroplasia may have an ear infection periodic and obesity conditions.

Causes of Achondroplasia

In the human body, there is a gene called FGFR3. This gene function for bone growth and maintenance. Mutations in this gene cause a disruption of cartilage into bone changes.Impaired bone growth makes the patient's condition becomes stunted.

Diagnosis Achondroplasia

The only way to ensure a person affected by achondroplasia are genetic tests to determine the presence of defects in the FGFR3 gene. However, this test is not necessarily performed by doctors without suspicion. In children or adults, the doctor's suspicion can be based to the body stature dwarf in sight. And gene analysis is usually done through a blood sample.
While the pregnancy, the suspicion can be based on a large head shape that is visible from the sonogram. Gene analysis is usually done through a sampling of the amniotic fluid in the womb.

treatment of Achondroplasia

Unfortunately, there is currently no cure or treatment method that can cure anything of achondroplasia. Handling is only intended to alleviate complications arising in patients with these disorders, such as the implementation of operating procedures for dealing spinal stenosis and antibiotics to relieve ear infection.

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