Genetic diseases

Familial hypercholesterolemia

It is considered the most common human genetic disease. If the patient inherits the gene that causes the disease from both the father and the mother, then the course of the disease is severe and life expectancy decreases dramatically (most patients die from a heart attack or blood-stroke before the age of 30, including high infant mortality). If the “sick” gene is inherited from only one of the parents, the disease progresses more slowly, but still the risk of early cardiovascular death increases by 20 times. At first, the disease is undetected: only a significant increase in the level of cholesterol in the blood (low density fraction) is observed. Then there are symptoms of cholesterol deposition under the skin in the tendons, eyes and symptoms of cardiovascular complications due to deposits of cholesterol on the walls of blood vessels and on the heart valves (including the development of ischemic heart disease, leading to myocardial infarction). With this disease there is no diet that could lead to a lower level of low-density cholesterol. Nevertheless, there is and effective medical treatment, it is critical to learn about it as early as possible.

Hypertrophic cardiomyopathy

This is exactly the disease that we learn about from the media, as it manifests itself in sudden fainting (sometimes ending in death) during sports and sports competitions. There are no other external symptoms. In the early stages, the disease is completely asymptomatic. It can be detected at an early stage only with echocardiography (ultrasound of the heart): the thickness of the heart muscle will be increased. There are treatments that can significantly reduce the risk of sudden cardiac death when diagnosed in a timely manner.

Hereditary hearing loss

Despite the intuitive manifestations - the child does not hear from birth, the disease is usually recognized lateк − closer to 3 years old, when the child does not begin to speak (while the child's speech apparatus is in order, he does not speak because he does not hear speech and cannot reproduce it). Currently, there are protocols for surgical and other treatment of this disease, but it must be started as early as possible in order to achieve results.

Duchenne myopathy

Only boys can have this illness, women are asymptomatic carriers of the disease. A new born child appears to be healthy, but by the age of 3-4 his parents begin to notice symptoms of a decrease in muscle strength: he cannot run fast, often falls, is motor awkward, and cannot jump on one leg. Further, the symptoms of muscle weakness progress to such an extent that by the age of 8-12 the boy stops walking. In the future heart damage and respiratory failures progress, death occurs from total muscle weakness. The disease has genetic treatment, but it is not applicable for all types of gene breakdown: it is necessary to determine the nature of the breakdown to determine the possibility of genetic treatment. There is also a basic treatment (non-genetic), applicable to all these patients, but its effectiveness is much lower.

Spinal muscular atrophy

The disease develops only if the child inherits the broken gene from both the mother and the father. According to various sources, carriers of the disease are up to 19% of the population. If a broken gene is inherited from only one parent, there will be no external manifestations of the disease, but the person will be a carrier. The disease debuts from birth, weakness of all muscles is observed and there are problems with breathing, intestinal motility. There is genetic treatment for this disease, so its timely diagnosis is very important. It is equally important to identify in advance the asymptomatic carriers of the broken gene in order to prevent the birth of a sick child in the family.

Long QT syndrome

The disease has only one manifestation - sudden fainting. Any of the fainting spells can be fatal. There is an effective drug treatment for the disease, which must be combined with the mandatory limitation of physical activity. Without treatment, most patients die at a young age, without having time to leave offspring. Currently, the availability of effective treatment allows patients to live long and bear children, but they also pass on the “sick” gene to the child. That is why it is important to undergo genetic testing in order to be sure that the baby will be healthy.

Hereditary leukodystrophy and leukoencephalopathy

The group of diseases combines hundreds of hereditary diseases in children that occur with damage to the white matter of the brain. The cumulative incidence of these diseases is up to 1:20,000 of the population. In most cases, the onset of the disease occurs in the first years of a child's life, but there is also a later onset of symptoms. With an early onset of the disease, the main manifestations are: delayed psychomotor development; children lose previously acquired motor, speech and other skills; certain forms of leukodystrophy and leukoencephalpathy occur with accelerated head growth and visual impairment, for example, nystagmus - "trembling" of the eyeballs when following a nearby object. At the onset of the disease at an older age, gait disturbance, increased muscle tone, swallowing disorders, the appearance of paresis and paralysis of the limbs, decreased memory, attention, mental disorders, and loss of skills are characteristic. The main difference between this group of diseases and others is that magnetic resonance imaging of the brain reveals a symmetrical lesion of the white matter.

Tuberous sclerosis

The disease is manifested by the development of many benign tumors in various organs. Depending on the organ in which the development of tumors is observed, the clinical manifestations of the disease vary: the most characteristic are epileptic seizures, mental disorders, damage to the skin, heart, and kidneys. Sometimes the disease proceeds so outwardly not expressed (for example, with predominant damage to the heart or kidneys) that patients do not know about the disease for a long time: for example, parents do not know that they have this disease. The disease progresses, often leading to disability and reduced life expectancy. The frequency of this disease is 1: 10,000. Interestingly, in almost half of the cases, a genetic breakdown first occurs in a sick child, and is not inherited from parents.

Neurofibromatosis type 1

A common genetic disease (incidence rate 1:3,000), accompanied by the development of many benign (much less often malignant) tumors of the central and peripheral nervous system. On the skin there are spots of the color "coffee with milk", multiple freckles with localization mainly in the axillary and inguinal region. Manifestations of the disease from the nervous system include: epilepsy, hydrocephalus, headaches, intellectual impairment. Bone lesions in the form of deformities and the formation of false joints are also characteristic.

Neuronal ceroid lipofuscinosis type 2

This disease has a genetic cause, debuts at an early age and manifests itself in the form of delayed speech development and epileptic seizures, which become more frequent with age and are not treatable with antiepileptic drugs. Movement disorders are also characteristic: muscle twitching, muscle tremors, impaired muscle tone, “worm-like” muscle movements, muscle spasm, which leads to impaired and unsteady gait. Patients have behavioral disorders - isolation, a tendency to repeatedly repeat the same movements. In the later stages of the disease, intellectual impairment and visual impairment appear. The frequency of the disease is up to 8 per 100,000 population

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