ABSTRACT
Huntington's disease (HD) is a progressive neurodegenerative autosomal dominant disease characterized by disturbed movements and behavior and cognitive decline. The motor disturbances are both choreiform and hypokinetic. As a result of the combination of these signs, it is known that many patients with HD suffer from dysphagia. Little is known about the frequency and the characteristics of dysphagia in HD. Well-balanced strategies for treatment and prevention of dysphagia in HD are lacking. Therefore, we have performed a detailed survey of the literature. We found that the patient groups studied were heterogeneous and the methods used were highly variable, and no balanced advice for prevention and treatment was systematically proven.
Subject(s)
Deglutition Disorders/etiology , Deglutition , Huntington Disease/complications , Deglutition Disorders/diagnosis , Disease Progression , Fluoroscopy/instrumentation , Fluoroscopy/methods , Humans , Huntington Disease/genetics , Risk FactorsABSTRACT
Besides chorea, hypokinesia is an important motor disturbance in Huntington's disease (HD) but its clinical, neuropsychiatric, and cognitive functioning correlates are largely unknown. This cross-sectional study investigates correlates of hypokinesia in HD and its effect on global functioning. Among 150 HD gene carriers, 96 patients were clinically motor manifest. Hypokinesia was assessed using the motor section of the Unified Huntington's Disease Rating Scale and global functioning was measured using the Total Functioning Capacity (TFC) scale. Neuropsychiatric measures included the Apathy Scale and the Composite International Diagnostic Interview for diagnosis of depression. The Mini Mental State Examination (MMSE) and a composite executive cognitive measure were used to assess global and executive cognitive functioning, respectively. Compared with 45 patients with no or mild hypokinesia, 51 patients with moderate to severe hypokinesia showed a significant difference in most clinical and neuropsychiatric variables and had worse cognitive functioning scores. However, using forward logistic regression analysis, poor executive cognitive functioning was the only independent correlate of hypokinesia (OR 7.33; 95% CI: 2.82-19.0; P < 0.001). Hypokinesia score was inversely associated with the TFC score (P < 0.001), also after adjusting for chorea, use of antipsychotics, apathy, and global and executive cognitive functioning. In conclusion, the presence of moderate to severe hypokinesia in HD patients co-occurs with executive cognitive dysfunction and adversely affects global functioning.
