We inherit from our ancestors the color of eyes, hair, height, and other external signs, the peculiarities of metabolism, the tolerance of food and drugs, character traits, certain types of activity, predisposition to various diseases, etc. The genetic brain disorder diagnosis has become more and more common over the past 30 years. Advances in technological progress, high levels of environmental pollution, nutritional imbalances in the early stages of pregnancy, when the baby’s brain is especially vulnerable, affect this process. And the combination of the influence of environmental factors, coupled with the innate genetic vulnerability of the mother or baby, can pose a significant threat to the child’s health. According to various studies, even the usual toxic substances in the environment early in a newborn’s life can significantly impact their mental capacity and cause neurological damage.
Hereditary diseases of the nervous system have a high proportion in the overall structure of neurological pathology. In hereditary diseases of the nervous system, various genetic defects can have similar clinical and morphological manifestations. The lack of correspondence between clinical signs and morphological changes complicates the diagnosis and the systematization of genetic brain disorder. The particular urgency of this problem is due to the lack of effective treatment methods and the existing possibility of repeated cases in subsequent generations.
What congenital neurological disorders exist?
The classification of nervous system diseases caused by mutation is extensive; This is due to heredity – genes, the set of which is unique for each person. The science of genetics explains why some people are susceptible to the disease while others, even living in the worst environment, do not get sick. If you have the first symptoms, you should immediately contact a specialist who will help you undergo genetic testing to develop personalized therapy to increase recovery risks. Main sections:
- Degenerative hereditary diseases of the nervous system. These include four subclasses of pathologies: damage to the cerebellum and connections, pyramidal tracts, subcortical ganglia, and neuroretinal degeneration.
- Hereditary neuromuscular diseases. These are the most extensive group of diseases of the nervous system. They include spinal and neural amyotrophies, progressive muscular dystrophies, myotonia, myopathic syndromes, and paroxysmal myoplegias.
- Metabolic disorders, accompanied by damage to the nervous system. This category includes metabolic disorders of amino acids, lipids, carbohydrates, pigment metabolism.
- Connective tissue diseases and phakomatosis. These include mucopolysaccharidoses, Marfan syndrome, etc.
Some disorders arise due to DNA abnormalities at the gene level. They are divided into three types:
- autosomal dominant;
- autosomal recessive;
- linked to X or Y chromosomes.
Genetic diseases include various metabolic disorders:
- phenylketonuria, alkaptonuria;
- galactosemia, glycogen disease;
- hereditary syndromes of malabsorption in the gastrointestinal tract;
- Marfan’s disease;
- hemolytic anemia;
- Niemann-Pick disease, Gaucher disease;
- gout, congenital Lesch-Nayyan syndrome;
- Konovalov-Wilson disease, etc.
A few types of the nervous system hereditary diseases
General diseases cannot be classified as autism spectrum disorders or other specific diseases. In such cases, the genetic analysis protocol will help understand the disease’s clinical manifestations and use new strategies for patient recovery.
In cases with such a disease, a possible diagnosis is usually considered trauma during childbirth, which has provoked mechanical damage and a prolonged lack of oxygen. However, several CP cases in one family and many instances of the disease in single marriages show that the genetic background is also the cause of it in 1-2% of cases.
Genetic causes, such as mutation, should be viewed as stimulating the disease rather than underlying it. One or another genetic background of the patient can enhance the influence of harmful effects of environmental factors, such as intoxication or the action of a superficial infection, which can also lead to LC.
In cases with mental retardation or oligophrenia, it is essential to determine the exact cause of the disease for correct treatment. Genetic and environmental factors must be considered separately and independently of other possible causes.
If the established cause of the disease is genetic in origin, most cases are the number of Down Syndrome diseases for both sexes. For males, the condition is called Martin-Bell Syndrome. However, in addition to this, there are 500 more varieties of hereditary mental retardation. That is why it is crucial to carry out genetic analysis in such cases.
Autism spectrum disorders
Within the group of disorders on this spectrum are attention deficit disorder and attention deficit hyperactivity disorder. This disorder is quite common and affects about 5-10% of children. By its definition, it is a behavioral syndrome with a clear neurobiological base and a genetic component. Among the possible causes of diseases from this group, those directly related to it have not been established. Therefore, the condition is multifactorial; in other words, both environmental and genetic factors influence its development.
Indications for gene diagnosis of hereditary diseases of the nervous system
Most often, molecular genetic diagnostics are used to confirm a clinical diagnosis. It allows you to narrow the search range and abandon potentially complex or dangerous instrumental research methods in unclear clinical cases. Genetic diagnostics can also be shown to apparently healthy people from families with a burdened history. In this case, the examination allows you to determine your future life plans; this is especially true when planning children. In addition, gene diagnostics enables you to relieve the anxiety that occurs when you suspect a heterozygous carrier.
Hereditary diseases of the nervous system are a large heterogeneous group of diseases based on genetically determined damage to peripheral nerves, spinal cord, and skeletal muscles. The presence of this mutation in genes causes gene diseases. Diseases caused by the presence of mutations in one gene are called monogenic. Among monogenic diseases, a significant percentage are enteropathies, various forms of mental retardation, defects in the organs of hearing, vision, skeletal dysplasias, congenital malformations, neurological diseases, endocrine, connective tissue, immune and other systems.