Neurogenetic disorders are conditions caused by changes in genes and chromosomes that affect the brain, spinal cord, nerves and muscles. Genetic diseases can be hereditary in nature but not always. It can be due to de novo(or 1st time) mutation, seen for the 1st time in family.
The cause of many child neurological issues like developmental delay, epilepsy, autism spectrum disorder, learning disorder etc can be genetically rooted. Many of the genetic diagnosis are challenging and needs expert opinion. Till then the parents may go doctor to doctor to find the cause of their child’s problem.
When a genetic cause is identified, the information may help families better understand a particular condition and it will avoid battery of unnecessary investigations. Genetic factors also may allow an estimate of recurring risk in a given family and may affect treatment of specific symptoms.
The test can be performed in blood, urine , cerebral spinal fluid etc. Advances in molecular genetics allow blood tests to check for certain genetic variations in the blood that are associated with a neurogenetic disorder instead of more invasive lumbar punctures and biopsies.