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).

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.

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

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

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.

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.

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.

Tuberous sclerosis

The disease is manifested by the development of many benign tumors in various organs.

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.

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.

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