Medical diagnosis of the onset of HD can be made following the appearance of physical symptoms specific to the disease.
A physical examination, sometimes combined with a psychological examination, can determine whether the onset of the disease has begun. Medical imaging, such as computerized tomography (CT) and magnetic resonance imaging (MRI), only shows visible cerebral atrophy in the advanced stages of the disease. Functional neuroimaging techniques such as fMRI and PET can show changes in brain activity before the onset of physical symptoms. A positive result is not considered a diagnosis, since it may be obtained decades before the symptoms begin. However, a negative test means that the individual does not carry the expanded copy of the gene and will not develop HD. Counseling and guidelines on the use of genetic testing for HD have become models for other genetic disorders, such as autosomal dominant cerebellar ataxias. Presymptomatic testing for HD has also influenced testing for other illnesses with genetic variants such as polycystic kidney disease, familiar Alzheimer's disease and breast cancer.
Differential diagnosis
Although HD accounts for ninety percent of the cases of chorea caused by genetic disorders, and an observational diagnosis for someone with typical symptoms and a family history of the disease is usually correct, a genetic test is required to rule out other disorders. Most of these other disorders are collectively labelled HD-like (HDL). As the disease progresses and a persons ability to tend to their own needs reduces, carefully managed multidisciplinary caregiving becomes increasingly necessary. Other drugs that help to reduce chorea include neuroleptics and benzodiazepines. Hypokinesia and rigidity can be treated with antiparkinsonian drugs, and myoclonic hyperkinesia can be treated with valproic acid.
Although there have been relatively few studies of exercises and therapies that help rehabilitate cognitive symptoms of HD, there is some evidence for the usefulness of physical therapy and speech therapy. However, more rigorous studies are needed for health authorities to endorse them. A multidisciplinary approach may be important to limit disability. The families of individuals, who have inherited or are at risk of inheriting HD, have generations of experience of HD which may be outdated and lack knowledge of recent breakthroughs and improvements in genetic testing, family planning choices, care management, and other considerations. Genetic counseling benefits these individuals by updating their knowledge, dispelling any myths they may have and helping them consider their future options and plans.
Further Reading
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"Huntington's disease"
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