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Prevention is not known, let alone the method of treatment. You're curious, let's read this article ...

Written By Hanny & Melissa on Saturday, May 04, 2019 | Saturday, May 04, 2019

Disorders of bone growth characterized by abnormal body (Dwarfism), and disproportionate, the scientific term is called Achondroplasia.

Achondroplasia sufferers have a normal breastbone size, but the size of their arms and legs is short.

The average height of adult male achondroplasia is 131 cm, while for adult women it is 124 cm.

Even though his physical condition is not normal, achondroplasia sufferers have a normal level of intelligence.

The cause of achondroplasia is a genetic mutation.

Genetic mutations are permanent changes that occur in the arrangement of DNA that forms genes. In achondroplasia patients, mutations occur in the FGFR3 gene, which is a gene that produces Fibroblast Growth Factor Receptor 3 protein.

This protein plays an important role in the process of ossification, which is the process of changing cartilage into hard bones. Mutations in the FGFR3 gene cause the protein not to function normally, thus disrupting cartilage changes into bone.

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This condition causes the bones to grow shorter and have an abnormal shape, especially the bones in the arms and legs. There are two causes of the FGFR3 gene mutation in patients with achondroplasia, namely:

1. Mutations that occur spontaneously.

- About 80% of achondroplasia is caused by gene mutations that are not inherited from their parents. Mutations occur spontaneously, but the trigger is not yet known.

2. Inherited mutations.

- About 20% of cases of achondroplasia are inherited from parents. If one parent has achondroplasia, the percentage of children suffering from achondroplasia is 50%.

- If both parents have achondroplasia condition, the risks that might occur are as follows:

1. 25% chance of being normal.

2. 50% chance of having one defective gene, causing achondroplasia.

3. 25% chance of inheriting two defective genes, causing fatal achondroplasia.

Physical signs of Achondroplasia since birth...

Just born, babies with achondroplasia can be identified through their physical characteristics, including :

1. The size of the arms, legs and fingers is short.

2. Head size is bigger, with a prominent forehead.

3. Teeth that are not parallel and close together.

4. There is space between the middle finger and ring finger.

5. Experiencing spinal deformities, can be in the form of lordosis (Forward curve) or kyphosis (Backward curve).

7. Narrow spinal canal.

8. O-shaped limbs.

9. Short and wide soles of the feet.

Furthermore, there are some health problems that may be experienced by people with achondroplasia, including:

1. Obesity.

2. Recurrent ear infections, due to narrowing of the canal in the ear.

3. Limitations in movement, due to a decrease in muscle tone.

4. Spinal stenosis, which is a narrowing of the spinal canal which results in nerve stress in the spinal cord.

5. Hydrocephalus, which is a buildup of fluid in the cavity (Ventricle) in the brain.

6. Sleep apnea, which is a condition characterized by the cessation of breathing during sleep.

Preventive action against achondroplasia is unknown...

Until now, achondroplasia prevention measures are unknown. If you are a sufferer, or have a family history of achondroplasia, then you can consult a geneticist to find out more about the risk of achondroplasia in a child who will be born.

Achondroplasia sufferers can also take preventive measures by avoiding various dangerous activities that are at risk of spinal damage.

There are no drugs or methods of treatment that can treat achondroplasia...

Until now, there is no method of treatment or medicine for achondroplasia. Handling is only intended to treat complications that arise, such as:

1. Antibiotics.

- To treat ear infections that may be experienced by achondroplasia sufferers.

2. Anti-inflammatory drugs.

- To treat patients with achondroplasia with joint disorders.

3. Operation.

- Operations can be done to overcome complications that may occur, including:

1. Orthopedic procedures.

- Procedures performed by orthopedic doctors to improve the shape of O's legs.

2. Lumbar laminectomy.

- An operating procedure to treat spinal stenosis.

3. Ventricul operitoneal shunt.

- The surgical procedure performed if achondroplasia sufferers experience hydrocephalus.

- This procedure is done by inserting a flexible hose (Catheter) to drain fluid in the brain cavity into the abdominal cavity.

4. Caesarean section.

- A birthing procedure that is generally traversed by women with achondroplasia because they have small pelvic bones.

- Caesarean section is also performed if the fetus is diagnosed with achondroplasia. This is done to reduce the risk of bleeding due to the fetus's head being too large to be born normally. You already understand, if this article is interesting and useful, please share it with your relatives and close friends ...

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