Three of the most important neurological disorders diagnosed with the help of genetic tests are dystonia, spastic paraplegia and Parkinson's disease, but there are many more.

 

Although the age of onset can vary greatly, these diseases are often chronic, debilitating and progressive. Therefore, an early diagnosis along with a comprehensive clinical interpretation is essential to choose an appropriate treatment plan.

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Epilepsy is a common neurological disorder characterized by a continuous predisposition to generate epileptic seizures. Seizures are episodes of excessive and abnormal neuronal activity in the brain. Approximately 50 million people currently live with epilepsy worldwide. The estimated proportion of the general population with active epilepsy (ie, continuous seizures or with the need for treatment) at a given time is between 4 and 10 per 1,000 people5. Epilepsy can occur alone or as part of a syndrome. Some forms of epilepsy are caused by a single genetic mutation and others are due mainly to the interaction of multiple genes and, sometimes, the environment. The total number and different types of genes known to be involved in epilepsy continue to grow, but many are well characterized6.

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Mental retardation (MR), better known as intellectual disability (ID), is a lifelong disability that occurs mainly in childhood or early childhood. It is characterized by an intelligence or mental ability below average. MR / ID can be classified as mild (IQ 50 to 70), moderate (IQ 35 to 49), severe (IQ 20 to 34), or deep (IQ less than 20) 7.

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MRI / identification occurs in ~ 0.5% of newborns and is usually linked to a genetic cause. For genetic testing, genome-wide detection for all types of genetic variations of MR / ID is highly recommended due to the wide genetic heterogeneity that exists between MR / ID7,8.