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Screening & Treatments

Screening

Achondroplasia can be detected before or after birth. To detect it before birth you can have an ultrasound done. (Kaneshiro, 2013) In the ultrasound the doctor will look for excessive amniotic fluid, a large head, or signs of hydrocephalus. It is harmless both to the baby and mother. The other option before birth is a pre-natal genetic screening, which is also called amniocentesis. In this process, the doctors take some amniotic fluid from the baby using an ultrasound-guided fine needle. (Nihira, 2012)  They then look at the chromosomes for any signs of abnormal genes. Amniocentesis is usually done between the 15th and 18th week of pregnancy. (Nihira, 2012) Though it is generally safe, amniocentesis has a 1% chance of causing miscarriage. Infections to the mother and baby could also occur, but it's exxtremely unlikely. (Nihira, 2012)

 

To detect achondroplasia after birth, you can look at your features and check if any symptoms match with the effects of achondroplasia. You can also partake in a genetic test. Though this time, the geneticists will need a sample of blood, a strand of hair, a piece of skin or any other tissue. Again, both of these methods cause little harm. The last option would be an x-ray. Doctors will look at bone length to determine whether you have achondroplasia. (DNA Learning Centre, 2014) This method produces very clear images, but has a small risk of damaging cells. 

 

Treatments

Currently, there are no treatments for achondroplasia. (Kaneshiro, 2013) But, there are treatments for some of its symptoms.

 

Height can be adjusted through a limb lengthening surgery. This process is done by breaking the desired limb's bone, spreading the segments apart, and then attaching the limb to frame for stabilization. (Paley, 2014) The patient is on strict bed rest for 10-12 months while the bone regenerates. (Paley, 2014) Even though this process, can adjust height, it is very painful. It can also affect muscle strength, due to lack of exercise. (Paley, 2014) Even with the possiblity of becoming a normal height, most little people choose not to undergo this surgery. (Short Persons Support, n.d)

 

Another helpful surgery is laminectomy. This surgery relieves pressure on nerves and the spinal cord. It is used to fix spinal stenosis and lessens its symptoms (i.e. numbness and pain in the legs). This is done by removing the lamina. (Mayo Clinic. 2014) This surgery is generally safe, but like any other surgeries, there are risks of complications.

 

Some complications include:

  • Bleeding (Mayo Clinic. 2014)

  • Infection (Mayo Clinic. 2014)

  • Blood clots (Mayo Clinic. 2014)

  • Nerve injury (Mayo Clinic. 2014)

  • Spinal fluid leak (Mayo Clinic. 2014) 

 

After the surgery, a recovery period of 3-4 months is expected. (Mayo Clinic. 2014) During this period you are prohibited from heavy lifting, bending or stooping. (Mayo Clinic. 2014) Physical therapy is also recommended. (Mayo Clinic. 2014)

A diagram of the limb lengthening procedure

The process of ultrasound

A diagram of laminectomy

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