Many people have never heard of Usher syndrome but some percentage of the population is already suffering through it. This disease can inherit from parents to their children. Let us understand what is it and some interesting facts about it. First of all, it is a genetic syndrome that causes blindness, deafness, and balance issues. Let us know some facts about Usher syndrome.
Table of Contents
1. Inheritable Syndrome
It is a rare condition and it gets inherited by both mother and father genes. If one parent has a carrier, then there are fewer chances that the child will be affected. Many parents do not know whether they are carriers of this syndrome. In the case of one parent with the usher gene, there is a 50% chance that the child will also have the disease.
There is a 25% chance that the child will become the carrier or there is a 25% chance that the child will not be a carrier of this syndrome. When you plan to have a child, make sure that you check whether you are a carrier of this disease or not.
2. Different Types
There are three types of Usher Syndrome:
- Type1: In this type, the affected person will have profound deafness. He will be deaf from both ears from his birth. When it comes to vision loss, the affected person will have decreased night vision before the age of 10. There are chances of gradual loss in peripheral vision. The child will have balance problems from his birth.
- Type 2: In Usher syndrome type 2, the level of deafness is from moderate to severe from birth. The night vision is decreased in the later stages of the child or teenage. The peripheral vision will lose gradually with time. There is no balance-related issue in this type.
- Type 3: In this type, the hearing ability is normal but when the child comes to the stage of early teen or childhood, there is a progressive loss of hearing. When it comes to vision loss, the severity level varies. The night vision problem occurs when the child enters the stage of teens. The peripheral loss starts losing gradually. If we talk about balance issues, initially everything is normal but later, there are chances of balance problems.
3. Reason Behind Usher Syndrome
It is an inherited-based syndrome that can be passed to a child through his parents. It happens due to the genes of both parents and it is located in everybody. There are two copies of every gene, which are given by both parents. Sometimes, there are chances that the genes can be mutated or altered. There is a possibility that the cells work differently than usual.
The inheritance of Usher syndrome cell belongs to an autosomal recessive trait. The mutated gene does not belong to chromosomes which helps in determining the sex of the child. The meaning of recessive means that an individual requires a mutated Usher syndrome gene to have this syndrome.
4. Importance of Early Diagnosis
It is necessary to diagnose children with Usher syndrome. There is nothing to say about the perfect treatment for this problem. There are lots of treatments that can help the patient to deal with blindness, deafness, and balance issues.
If your child starts taking the treatments at the initial stages of the syndrome, then there are chances of success. It is necessary to do something on time before it gets too late. You should know why early diagnosis is crucial:
- Children with this syndrome cannot communicate well with their families. It is easy to detect some of its signs in the early stages. If you ignore these signs, then later with time, these signs will become severe and it will be hard to treat them.
- Anyone with a hearing problem needs mobility training. Many people find the signs when they observe that their child cannot see anything at night or maybe any accident could happen. Many children cannot balance while riding bicycles or skating. Early diagnosis can help at the beginning of the treatment.
- When you visit the clinic for a late diagnosis, there are chances that there will be no treatments left for your child. You should not get stuck in the condition where you are going to the clinic with the hope that your child will be fine one day. Your treatment starts only when you are aware of the problem.
- It is easy to do family planning if you have diagnosed the syndrome at an early stage. Both father and mother need to diagnose the problem before they do any family planning. Early diagnosis will help them to decide whether they should give birth to a child or not. If yes, then they must take medications or treatments to avoid the condition.
- Early diagnosis of Usher syndrome helps in satisfying your doubts regarding this problem. Every parent is concerned about his child and it is necessary to know whether everything is okay with his child.
5. Method to Diagnose the Syndrome
It is quite easy to detect the presence of syndrome by doing a DNA or genetic test. It is easy to detect whether the person is carrying the mutant that can affect his child. By using medical tests, it is easy to predict the trait or disease. The person needs to give the blood sample for the DNA test. The cheek cells are also collected from your mouth to do the test. The sequence of genes is tested and detected.
The Bottom Line
Usher syndrome is a rare condition that millions of individuals do not know. It can inherit from parents to their children. Any person can have this syndrome without having any idea. It is necessary to know some interesting facts about this syndrome to make yourself aware.
It is important to diagnose the problem at an early stage so that it can be treatable. If you ignore or delay the signs, then things may get worse. It will be hard to treat vision loss, deafness, and balance loss with many treatments. For more information, click here.