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Huntington’s chorea, also known as Huntington’s disease, is a rare, inherited neurodegenerative disease that affects patients’ motor and cognitive functions. In this article we will discuss what this disease is, its causes, symptoms, methods of diagnosis, treatment and prognosis.
Huntington’s disease is an inherited neurodegenerative disease that affects patients’ nervous systems. It is a progressive condition that leads to a gradual loss of the ability to control movements, cognitive problems and personality changes. The disease is caused by a mutation in the huntingtin gene, which leads to toxic accumulation of the protein in nerve cells.
Huntington’s disease is inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the mutated gene if one of the parents is a carrier of the mutation. The mutation involves the expansion of the triple CAG codon in the huntingtin gene. The higher the number of repetitions of this codon, the earlier the symptoms of the disease will appear.
The symptoms of Huntington’s disease are diverse and may vary from person to person, but the most common include:
The diagnosis of Huntington’s disease is based on the observation of clinical symptoms and genetic tests. DNA testing can confirm the presence of mutations in the huntingtin gene. Diagnosis is crucial to plan appropriate treatment and support for the patient.
Unfortunately, there is no cure for Huntington’s disease, but there are treatments to relieve symptoms and delay the progression of the disease. These therapies may include anticonvulsants, antipsychotics, and physical and occupational therapies. Psychological support for both the patient and his family is also important.
The prognosis for Huntington’s disease is usually uncertain. The progression of the disease may vary from person to person, but generally speaking, it leads to a significant decline in neurological function. The average life expectancy of patients after the onset of symptoms is 10 to 30 years. As the disease progresses, patients require more and more care and support.
If you have any suggestions for treatment or support for people with Huntington’s disease, it is always worth consulting your doctor or neurology specialist. Each case is unique, so it is important to tailor therapy to the patient’s individual needs.
If you are interested in Huntington’s disease, we recommend reading other articles on the subject that may provide additional knowledge and support for people affected by this disease.
Huntington’s chorea is a serious neurodegenerative disease that affects not only patients but also their families. It is important to understand the causes, symptoms, diagnosis, treatment and prognosis of this disease in order to provide appropriate care and support to patients and their loved ones.