Mucolipidosis IV Carrier DNA Tests 

Mucolipidosis IV Carrier DNA Tests

What is Mucolipidosis IV?

Unless you are of Ashkenazi Jewish descent or know somebody who has mucolipidosis, you have probably never heard of or  come across this neurodegenerative disorder which is identified by four various types.   It is sometimes confused with cerebral palsy when initially diagnosed.

Unfortunately, at this time, there is no treatment for mucolipidosis IV. Those that do survive into their adult years have numerous impairments and often a poor quality of life. They are generally treated with physical therapy, speech treatments, corneal transplants, iron supplements, and a selection of techniques and procedures aim at reducing their symptoms.

Researchers have actually been able to recognize the genetics cause of the illness. The problem is defined by anomalies of proteins in cells. Mucolipidosis IV happens if a child inherits two alleles of the malfunctioning gene, one from each parent. If both parents carry the defective gene, their child has a one in four chance (25%) of having the illness or a one in two chance of obtaining the malfunctioning gene then possibly passing it on to their offspring.

Those who have only one faulty gene are called carriers. These individuals do not have any type of symptoms yet they can pass the faulty gene on their offspring. They inherited one mutant gene from one parent, but a normal gene from the other parent, so the disease is resesive, but it can be passed on. It is estimated that about one individual in 40,000 is affected and maybe 1 in 90 are carriers.

Researchers have the ability to identify the faulty gene with DNA testing and make an accurate diagnosis of mucolipidosis IV. They can evaluate for the disease or get details regarding the possibility of passing on this genetic disorder with prenatal screening around the 8th week of maternity.  Obviously if you have Mucolipidosis IV in your family you will want yourself to be tested and not want to wait until a prenatal screening is done.

Depending upon the type of insurance policy protection and also yearly insurance deductible, testing could be extremely pricey. To decrease this expense one partner can be evaluated initially and if they are found to be a carrier the other could then be DNA tested. 

Although Ashkenazi Jews are most susceptible, the disorder is found in those of various other ethnic backgrounds, yet less frequently. Because of the severity of the condition, it is essential to be checked for reproductive danger if there is a history of mucolipidosis IV in the household and a possibility of sending it to the future generation. Our hearts go out to families dealing with this genetic disease and we hope that testing will continue to be less expensive and a cure can be found.