Huntington's disease
The content of the article:
- Causes and risk factors
- Forms of the disease
- Symptoms
- Features of the course of the disease in children
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
- Prevention
Huntington's disease is a severe, progressive neurodegenerative brain disease characterized by progressive dementia and choreic hyperkinesis. It occurs with a frequency of 10 cases per 100,000 population, in men and women equally. The first symptoms can appear at any age, but usually the onset of the disease occurs in 30-50 years.
Synonyms: Huntington's chorea, chorea dementia, hereditary chorea, progressive chronic chorea, degenerative chorea.
Areas of the brain most affected by Huntington's disease
Causes and risk factors
Huntington's disease is an autosomal dominant genetic disorder. The probability of having a sick child in a married couple where one of the parents suffers from this pathology is 50%.
The mutated HD gene is located on chromosome 4p16.3. He is responsible for the synthesis of a special protein - huntingtin. The named protein is toxic to some types of cells, especially to the nerve cells of the striatum of the brain, the main functions of which are:
- decreased muscle tone;
- regulation of the work of internal organs;
- participation in the formation of conditioned reflexes;
- participation in the implementation of some behavioral reactions.
Huntington's disease is inherited genetically
Forms of the disease
There are two forms of Huntington's disease, depending on the age at which the disease occurs:
- Typical. It is observed in 90% of all cases. Develops at 35-40 years old. The first symptoms are usually excessive movements occurring against the background of decreased muscle tone.
- Juvenile (Westphal variant). Occurs up to 20 years. It is characterized by increased muscle tone and less severity of involuntary movements.
Symptoms
In adults, Huntington's disease usually starts with the development of choreic syndrome. The first symptoms of the disease are fussiness and restlessness. In the future, motor disturbances increase. The most characteristic signs of choreic syndrome in Huntington's disease:
- convulsive irregular movements of the trunk and (or) limbs;
- articulation disorders;
- sobbing;
- twitching of the cheeks;
- alternating raising and / or frowning of eyebrows;
- sticking out the tongue;
- "Dancing" gait.
The progression of Huntington's disease leads to disability
At the very early stages of the development of Huntington's disease, patients have impaired executive functions, thinking, and decreased concentration of attention. Mental disorders develop:
- periodic disinhibition;
- irritability;
- alienation;
- apathy;
- depression;
- obsessive states;
- rave.
Features of the course of the disease in children
Juvenile Huntington's disease is relatively rare. The disease in children and adolescents usually begins with a slowdown in active and friendly movements (bradykinesia), as well as with a significant increase in muscle tone (rigidity). Unlike adults, children with Huntington's disease often have seizures.
Children with Huntington's disease often have seizures
As the pathology progresses, speech function is impaired. Already in the early stages, there are problems with the pronunciation of certain sounds. At the same time, the syntactic and semantic structure of speech persists for a long time.
Diagnostics
Patients with suspected Huntington's disease are advised to undergo magnetic resonance imaging or computed tomography of the brain. On tomograms, signs of atrophy of the caudate nuclei are determined, the severity of which increases as the disease progresses.
Brain MRI is done to diagnose Huntington's disease
The diagnosis is verified according to the results of molecular genetic research. Using the polymerase chain reaction (PCR), the number of turns of the cytosine - adenine - guanine triplet in the HD gene is determined. The diagnosis is considered confirmed if the number of repetitions in adolescents is 50 or more, and in adults it exceeds 36.
Treatment
Specific therapy for Huntington's disease has not been developed. Treatment is aimed at combating hyperkinesis. For this, patients are prescribed drugs of the phenothiazine series, which are dopamine antagonists, and tranquilizers.
Surgical treatment of Huntington's disease (stereotaxic surgery) is ineffective.
The main direction in the treatment of Huntington's disease is the fight against hyperkinesis with the help of drugs
Possible complications and consequences
Huntington's disease can be complicated by:
- pneumonia;
- chronic heart failure.
Forecast
The prognosis is poor. Death occurs within 10-15 years from the onset of the first symptoms of the disease. The average life expectancy of patients with this diagnosis is 45–55 years.
Prevention
There are no methods to identify carriers of a mutated gene before they develop clinical signs of Huntington's disease, and therefore certain difficulties arise when conducting medical and genetic counseling. If there is a child in the family suffering from this disease, or it has developed in one of the parents, it is recommended to abandon the further possibility of having children.
Elena Minkina Doctor anesthesiologist-resuscitator About the author
Education: graduated from the Tashkent State Medical Institute, specializing in general medicine in 1991. Repeatedly passed refresher courses.
Work experience: anesthesiologist-resuscitator of the city maternity complex, resuscitator of the hemodialysis department.
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
