Open AccessOn the hunt for a cure
Author(s) -
Jennifer de la Cruz,
J. C. Hwang
Publication year - 2021
Publication title -
journal of the american academy of physician assistants
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.24
H-Index - 17
ISSN - 0893-7400
DOI - 10.1097/01.jaa.0000735740.95438.60
Subject(s) - chorea , disease , presentation (obstetrics) , huntington's disease , neurology , family history , psychiatry , medicine , genetic testing , cognition , multidisciplinary approach , pediatrics , psychology , surgery , pathology , social science , sociology
Huntington disease is a rare genetic disorder characterized by motor, cognitive, and psychiatric impairments. Although the typical patient has a positive family history and initially presents with chorea between ages 30 and 50 years, some patients do not have a typical presentation. Healthcare providers should know when to refer patients to neurology for testing for Huntington disease. The earlier the diagnosis is made, the earlier the patient and patient's family can receive education about the expected disease trajectory. A multidisciplinary approach is required to mitigate symptoms as the disease progresses. Although no cure exists, ongoing research is targeting genotypic abnormalities in hopes of finding a permanent treatment for Huntington disease.