What happens in the brain and how it is inherited
The cause of the disease is an increase in the number of repeating regions in a particular gene. The resulting protein acquires toxic properties and accumulates in neurons, primarily in the basal ganglia, which regulate the smoothness of movements. The more repetitions, the earlier the disease usually begins. Inheritance is autosomal dominant: one altered copy of the gene from either parent is enough, and the risk for each child is fifty percent. The mutation carrier almost always gets sick if he survives to the appropriate age.
- Increased number of repeats in a gene
- Death of basal ganglia neurons
- Autosomal dominant inheritance
- The risk for each child is fifty percent.
- Early start with many repetitions
Symptoms
Often, character and mood are the first to change: irritability, apathy, suspicion appear, and the ability to plan and switch decreases. The movements at first look like fussiness or restlessness, then become clearly involuntary: twitching of fingers, grimaces, restless shoulder movements, unsteady gait. Over time, speech and swallowing disturbances occur, and chorea in the later stages may be replaced by stiffness. Cognitive impairment increases gradually, while the person takes a long time to realize what is happening, which makes psychological support especially important.
- Chorea - involuntary rapid movements
- Irritability, apathy, depression
- Decreased memory and planning
- Speech and swallowing disorders
- Unsteady gait and falls
- Weight loss with a normal diet
Diagnostics and genetic test
A neurologist evaluates movement, cognitive function, and family history. An MRI of the brain may show a decrease in the volume of certain structures, but the diagnosis is confirmed by a genetic analysis that determines the number of repeats. Testing for existing symptoms solves the diagnostic problem. The situation is completely different with predictive testing in healthy relatives: it is carried out only after consultation with a geneticist and psychologist, since the result affects the rest of life and is not accompanied by the possibility of preventive treatment. Children without symptoms are not given this test.
- Neurological examination and movement assessment
- Detailed family history
- Genetic repeat number analysis
- MRI of the brain
- TSH and other tests to exclude other causes of chorea
- Mandatory genetic counseling before and after the test
Treatment of symptoms
There is no therapy to stop the disease yet, but a lot can be done to improve the quality of life. If involuntary movements interfere, drugs that reduce chorea are used; they are selected by a neurologist, taking into account that some of them can increase depression. It is very important to actively treat low mood, anxiety and irritability - these have the greatest impact on daily life and respond well to treatment. Physical therapy classes, work with a speech therapist for speech and swallowing disorders, and help from a nutritionist are needed, since the need for calories is increased.
- Drugs to reduce chorea
- Treatment for Depression and Anxiety
- Therapeutic exercise and fall prevention
- Classes with a speech therapist
- High calorie nutrition and safe food consistency
- Organizing a safe home environment
- Regular monitoring by a neurologist and psychiatrist
Family support
The disease affects not only the patient: loved ones live with uncertainty about their own risk and bear a large burden of care. It is helpful to discuss legal and financial issues in advance while the person is capable of making decisions. Families considering testing should understand that the decision can be delayed, and there are prenatal and preimplantation diagnostic options when planning a pregnancy. The whole family needs psychological support, and information should come from a doctor, and not from random sources.
- Genetic counseling for relatives
- Planning pregnancy with a geneticist
- Early resolution of legal issues
- Psychological support for family
- Distribution of care responsibilities
- Preventing caregiver burnout
- Reliable sources of information