Huntington’s disease (synonyms: chorea chronica progressiva hereditaria; chorea major; hereditary St. Vitus’s dance; hereditary St. Vitus’s dance; major St. Vitus’s dance; Huntington’s disease; Huntington’s syndrome; Huntington’s disease; St. Vitus’s dance; ICD-10-GM G10: Huntington’s disease) is a genetic neurodegenerative disorder that results in a gradual loss of nervous tissue in the central nervous system.
The disease is inherited in an autosomal dominant manner. Only 5-10% carry a spontaneous mutation as the cause.
“Chorea” comes from the Greek and translates to “dance.” Since the involuntary and uncoordinated movements characteristic of the disease are reminiscent of a dance, the disease was given this name. At the same time, flaccid muscle tone is present.
Hereditary (inherited) Huntington’s disease is the most common form of Huntington’s disease (90-95% of cases).
Sex ratio: males to females is 1: 1.
Frequency peak: the disease occurs predominantly in the 5th decade of life. In 5-10% of cases, symptomatic manifestation occurs between the 2nd and 3rd decade of life – this is referred to as juvenile Huntington’s disease.
The prevalence is 0.005-0.007% (in Europe, North America and Australia); 0.0004% (in Asia).
The incidence (frequency of new cases) is 4 cases per 100,000 population per year (in Europe, North America, and Australia).
Course and prognosis: The disease is progressive and leads to death after an average of 15-20 years after the onset of symptoms. Only about 1/3 of affected individuals live longer. Frequent aspiration pneumonia (pneumonia caused by inhalation of foreign substances (often stomach contents)) and respiratory insufficiency (respiratory failure/respiratory weakness) are the main causes of mortality (number of deaths in a given period, relative to the number of the population concerned).
The course of the juvenile form is also progressive, leading to death after an average of 10-15 years after the onset of the first symptoms.
Comorbidities (concomitant diseases): The most common comorbidity of Huntington’s disease is depression, with a prevalence of approximately 30%. Obsessive-compulsive symptoms are also frequently observed.
