What is the nervous system?
The nervous system is made up of the brain, nerves, and spinal cord. They work together to control the body and its different systems. Problems with the nervous system can affect many other parts and functions of the body, including its physical, speech, language, feeding and eating, and respiratory functions.
What are the main rare nervous system diseases?
There are many neurological diseases. These include conditions caused by injury or damage to the spinal cord or problems with the development of the different parts of the nervous system. Tumors on any part of the nervous system may also cause specific neurological conditions. There are also degenerative diseases caused by a degeneration in the nerves. Others are caused by infections, for example, meningitis. They can also include well-known conditions such as stroke, resulting from problems with the blood vessels that serve the brain.
Other neurological conditions, specifically rare nervous system diseases, have a genetic cause. They are the result of changes in genetic material or due to a deletion of genetic material.
These include:
1. 22q11.2 deletion syndrome
This rare disease is caused by the deletion of genetic material on chromosome 22. Symptoms include feeding issues, gastrointestinal problems, problems with the immune system, and resultant infections.
2. Birk-Barel syndrome
Babies born with this syndrome are often lethargic with a weak cry. Some infants experience feeding problems, usually related to swallowing, which leads to a failure to thrive and grow properly.
3. Smith-Lemli-Opitz syndrome
The main symptoms of Smith-Lemli-Opitz syndrome are behavioral and learning problems, with many individuals also being diagnosed with autism.
4. Coffin-Siris syndrome
Its main symptoms include what are often described as coarse facial characteristics – a wide mouth and nose, thick lips, flat nasal bridge, and short stature. Individuals may also suffer from respiratory issues.
What should I do if I suspect my child is showing symptoms of a rare nervous system disease?
If you have any concerns about your child’s health, the first step is to consult with a medical professional. This can be your family doctor as the first port of call.
If you have spoken to a healthcare professional and still have concerns and are looking for a second opinion, or if you are simply looking for more information on the link between your child’s symptoms and possible rare diseases, then turning to an AI facial screening platform for genetic analysis, followed by genetic counseling, and genetic testing, might be something to consider.
