Hereditary Diseases Of The Nervous System

In this article, learn more about Hereditary Diseases Of The Nervous System. This article will discuss hereditary diseases of the nervous system..

This article will discuss hereditary diseases of the nervous system.

Ley's syndrome

Leigh syndrome (subacute necrotizing encephalomyelopathy) is a hereditary disease caused by mutations in the mitochondrial genome. It first appears at the age of 1-2 years.

Characteristic manifestations of the syndrome :

• Ataxia
• Atrophy of optic nerves
• Delay and regression of psychomotor development
• Muscular hypotonia
• Ophthalmoplegia
• Paralysis
• Paresis, atrophy
• Increase of tendon reflexes
• Respiratory anomalies
• Deafness

The development of cardiomyopathy is also possible.

Maternal inheritance. The syndrome is characterized by a malignant course with a fairly quick fatal outcome.

Tourette syndrome

Tourette's syndrome is a disorder of the central nervous system, which is characterized by a combination of tic-like twitching of the muscles of the neck, face, shoulder girdle, involuntary movements of the tongue, coughing, and in some cases, involuntary obsessive repetition of words or sounds. Usually, the manifestations of the disease begin at the age of 5-6, when the child begins to make sounds that he cannot control or make uncontrollable movements. Having started in childhood, the disease can last throughout life, with some smoothing of symptoms over time.

A certain set of genes is thought to increase the risk of developing the condition. In the treatment of Tourette's syndrome, psychotropic drugs and psychotherapy are used. As a result, it is possible to smooth out the severity of tics to some extent and reduce the patient's emotional tension.

Spinal muscular atrophy

Spinal muscular atrophy is a disease characterized by damage to muscle neurons in the spinal cord, resulting in muscle weakness and impaired motor functions. Usually the disease begins in early childhood, already in the first year of life and progresses quite quickly. Most of the children do not live to the age of 5, others become disabled. The disease has a genetic nature and the prerequisites for its development can be established even before the birth of a child.

There is no effective treatment for this disease. Supportive treatment aimed at improving muscle tone (massages, special exercises) is carried out. Orthopedic correction of limbs is also used.

Huntington's disease

Huntington's disease (Huntington's chorea) is a hereditary disease characterized by involuntary movements, restless behavior, reduced intelligence and subsequent dementia. The reason for the development of the disease is the protein "huntingtin", which destroys brain neurons associated with intelligence, emotions and motor activity.

As a rule, the disease develops at the age of 35 to 50 years. It can occur in combination with various mental disorders. To date, there is no treatment for this disease. Symptomatic treatment aimed at correcting the manifestations of the disease is prescribed to alleviate the patient's condition.

Batten's disease

Batten's disease is a hereditary genetic disease characterized by the accumulation of lipopigments (fats and proteins) in the cells of the brain, skin, eyes, and other tissues.

Symptoms of Batten disease :

• Muscle spasms
• Incoordination of muscles
• Vision loss and blindness
• Movement problems
• Weakening of mental function
• Decreased muscle tone
• Convulsions
• Mental deficiency

It is currently impossible to stop the progression of the disease. Treatment is aimed at correcting the symptoms of the disease.

Keneven's disease

Keneven's disease (Canavan-van Bogert disease, spongiform degeneration of the white matter of the brain) is a hereditary disease characterized by progressive damage to brain cells. Signs of the disease appear in childhood, at 3-6 months.

Symptoms of Keneven's disease :

• Developmental delay
• Loss of muscle tone
• Serious problems with feeding
• Enlargement of the head (macrocephaly).

Most patients with Kenewen's disease die before the age of 10. Currently, there is no effective treatment for the disease.

Wilson-Konovalov disease

Wilson-Konovalov disease is a violation of copper metabolism in the body, which leads to severe diseases of the central nervous system and internal organs. The disease is transmitted according to the autosomal recessive type.

Symptoms of Wilson-Konovalov disease :

• Affective outbreaks (mental disorders)
• Dysphagia and dysarthria
• Muscle stiffness (stiffness)
• Involuntary movements of the limbs and trunk

A typical symptom of the disease in late forms is a ring of Kaiser-Fleischer deposits on the cornea containing greenish-brown copper.

Medicines that normalize copper metabolism are used to treat Wilson-Konovalov disease. In view of the fact that such drugs have significant side effects, the patient is also prescribed tonics and vitamins. In the treatment of the disease, a diet that excludes products containing copper (fish, mushrooms, chocolate, liver, etc.) is recommended.