Huntington’s disease: diagnosis and management
| Autor: | Sarah L Mason, Julia C. Greenland, Thomas B Stoker, Helen Santini, Simon Holden, Roger A. Barker |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Movement disorders medicine.diagnostic_test business.industry Neurodegenerative Diseases Chorea General Medicine Disease medicine.disease Huntington Disease Huntingtin Gene Huntington's disease medicine Humans Genetic Testing Neurology (clinical) medicine.symptom business Cognitive impairment Asymptomatic carrier Genetic testing |
| Zdroj: | Practical Neurology. 22:32-41 |
| ISSN: | 1474-7766 1474-7758 |
| DOI: | 10.1136/practneurol-2021-003074 |
| Popis: | Huntington’s disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. This has become increasingly important recently, with several putative disease-modifying therapies entering trials. A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing. Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited. |
| Databáze: | OpenAIRE |
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