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Achondroplasia

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Oleh
Achondroplasia is a disorder of bone growth characterized by a dwarf and disproportionate body. Achondroplasia sufferers have normal breast bone size, but the size of the arms and legs is short.


Average height of achondroplasia sufferers :
  • Adult males are 131 cm.
  • Adult women are 124 cm.
Even though the physical condition is not normal, achondroplasia sufferers have a normal level of intelligence.

Cause.
The cause of achondroplasia is genetic mutations. Genetic mutations are permanent changes that occur in the composition of DNA that make up genes.
  • Mutations occur in the FGFR3 gene, the gene that produces the Fibroblast Growth Factor Receptor 3 protein. This protein plays an important role in the ossification process, namely the process of changing cartilage into hard bone.
  • Mutations in the FGFR3 gene cause proteins to not function normally, thus interfering with changes in cartilage to bone. This condition causes bones to grow shorter and has an abnormal shape, especially the bones in the arms and legs.
2 causes of the FGFR3 gene mutation :
  • Spontaneous mutations ➡ About 80% of cases of achondroplasia are caused by mutations in genes that are not inherited from their parents. Mutations occur spontaneously, but the triggers are not yet known.
  • Inherited mutations ➡ About 20% of cases of achondroplasia are inherited from parents. If one parent has achondroplasia, then the percentage of children suffering from achondroplasia is 50%.
If both parents have achondroplasia, the possible risks are :
  • 25% chance of normal body.
  • 50% chance of having one defective gene, causing achondroplasia.
  • 25% chance of inheriting two defective genes, resulting in fatal achondroplasia.
Achondroplasia physical characteristics.
  • Short arms, legs and fingers.
  • Head size is larger, with a prominent forehead.
  • Teeth that are not parallel and close together.
  • There is space between the middle finger and ring finger.
  • Having spinal deformities, can be in the form of lordosis (curved forward) or kifosis (curved backward).
  • Narrow spinal canal.
  • O-shaped limbs.
  • Short, wide soles.
  • Weak muscle strength.
Health problems that may be experienced by achondroplasia sufferers :
  • Obesity.
  • Ear infections recur, due to narrowing of the ducts in the ear.
  • Limitations in moving due to decreased muscle tone.
  • Spinal stenosis : narrowing of the spinal canal that causes nerve pressure in the spinal cord.
  • Hydrocephalus : accumulation of fluid in the cavities (ventricles) in the brain.
  • Sleep apnea : a condition characterized by the cessation of breathing during sleep.
Diagnosis.
  • Tracking the patient's medical history and patient's family.
  • Overall physical examination.
  • Achondroplasia sufferers can be seen from birth with the characteristics of short legs and disproportionate.
Examination during pregnancy :
  • USG. 
  • Detection of the FGFR3 gene mutation by taking a sample of amniotic water (amniocentesis) or placental tissue sample (with chorionic villus sampling). This action risks miscarriage.
  • DNA testing to confirm the diagnosis of achondroplasia. DNA testing is done by taking DNA samples from the blood for analysis in the laboratory. DNA samples are used to detect possible abnormalities in the FGFR3 gene.
Treatment.
Until now, there is no drug or that can treat achondroplasia. Treatment is only intended to treat complications that arise, such as :
  • Antibotics : to treat ear infections experienced by achondroplasia sufferers.
  • Antiinflammatory drugs : to treat achondroplasia patients with joint disorders.
  • Orthopedic surgery : to improve the shape of the O leg.
  • Lumbar laminectomy : to treat spinal tenosis.
  • Ventriculoperitoneal shunt : performed if an achondroplasia sufferer has hydrocephalus. Insert a flexible tube (catheter) to drain fluid in the brain cavity into the abdominal cavity.
  • Caesarean section : for pregnant women with achondroplasia who 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 because the fetal head is too big to be born normally.
Prevention.
Precautions against achondroplasia are not known until now. 
  • If you have a family history of achondroplasia, it is advisable to consult a geneticist to find out about the risk of achondroplasia in the child to be born.
  • Achondroplasia sufferers can also do prevention by avoiding activities that are at risk of damaging the spine.
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Comments

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