Huntington’s disease (case report)

Huntington’s disease (case report)

M.V. Mikhaleva, V.V. Pestretsova, A.V. Gorodnicheva

Victoria V. Pestretsova, e-mail: disturbedcat45@gmail.com

Ural State Medical University, Yekaterinburg, Russian Federation

Huntington’s disease (HD) is a severe hereditary neurodegenerative disease characterized by a triad of clinical syndromes: extrapyramidal disorders (mainly choreic hyperkinesis); cognitive impairment; behavioral and mental changes. The condition is characterized by autosomal dominant inheritance, steadily progressive course, as well as lack of efficient pathogenetic treatment. HD cases are still quite rare in routine clinical practice of a neurologist, and they are of interest to both novice medical practitioners and experienced ones.

The paper describes a clinical case report of a patient with diagnosed HD. The disease onset was a hyperkinetic disorder. For the first time, the patient complained to a therapist in 2017, but she has not undergone the prescribed examination and has not received appropriate treatment. In 2022, she sought medical help from a neurologist. During this period (5 years after the first complaints), her condition worsened. The neurologist made a preliminary diagnosis of Huntington’s chorea and prescribed a comprehensive examination including a medical and genetic analysis. As a result, the diagnosis (Huntington’s disease) was verified, and treatment was prescribed. Due to low compliance, the patient took prescribed medications occasionally and skipped medical consultations.

Nevertheless, the paper presents the examination results and describes management of the patient from 2017 to 2024. This is of undoubted interest in terms of observation of development of the disease symptoms. The authors hope that the clinical case report will be useful to clinicians, and, first of all, to therapists dealing with such patients initially, will remind of the rare disease and will help in diagnosis and choice of tactics for further examination of these patients. The clinical case report demonstrates difficulties in examination and management of such patients. Diagnosis is often complicated by a wide range of necessary diagnostic manipulations (including molecular genetic analysis), and a multidisciplinary approach is also important. Unfortunately, to date, prognosis is unfavorable for these patients, but early initiation of treatment may alleviate the disease course and improve the patient’s quality of life.

Keywords: Huntington’s disease, neurodegenerative disease, cognitive impairment, chorea.

For citation: Mikhaleva M.V., Pestretsova V.V., Gorodnicheva A.V. Huntington’s disease (case report). RMJ. 2026;4:23–26. DOI: 10.32364/2225-2282-2026-4-5