Functional decline in Huntington's disease

Abstract

We prospectively evaluated 129 patients with manifest Huntington's disease (HD) to determine the rate of illness progression and the clinical features that correlate with functional decline. A single examiner evaluated each patient using the HD Functional Capacity Scale. Standardized motor performance was also assessed in 94 of the patients (73%) using the HD Rating Scale. Total Functional Capacity declined at a rate of 0.63 +/- 0.75 U per year. As functional capacity worsened, chorea lessened, and dystonia intensified. There was no correlation between rate of functional decline and age at onset of HD, body weight, gender of affected parent, or history of neuroleptic use.

Unraveling a role for dopamine in Huntington's disease: The dual role of reactive oxygen species and D2 receptor stimulation

“…These strategies are important considering that, so far, there are no available therapies aimed at slowing down disease progression, and, consequently, HD progresses inexorably to death. Although most of the patients are treated by neuroleptics that share D2 receptor antagonist properties, there is no clear correlation between neuroleptic treatments and rate of illness progression (43,44). Furthermore, patients who receive neuroleptics may experience numerous side effects, including extrapyramidal syndrome.…”

Rate of caudate atrophy in presymptomatic and symptomatic stages of Huntington's disease

“…13 We recently published the first magnetic resonance image (MRI) study demonstrating longitudinal change in caudate nucleus volume over a 2-year period in symptomatic patients with HD. 15 Several scales of symptom severity have been demonstrated to document longitudinal change in motor functioning, cognitive functioning, behavioral abnormalities, and functional capacity in untreated patients (for example, the Unified Huntington's Disease Rating Scale, 16,17 the HD Functional Capacity Scale [also known as the Shoulson-Fahn Functional Capacity Scale], [18][19][20] and the Quantified Neurological Exam 21,22 ). Neuropsychological testing has also demonstrated longitudinal declines in symptomatic 22 but not presymptomatic carriers of the HD gene mutation.…”

Dystonia in Huntington's disease: Prevalence and clinical characteristics

“…This was occasionally accompanied by slight wrist flexion. Sustained fist clenching only occurred while ambulating); (3) foot inversion (intorsion and plantar flexion of the foot while ambulating); (4) excessive knee flexion during ambulation (a repetitive movement or posture that may be characterized as follows: during the stride phase of walking, holding the knee in a normal flexed position for an excessive length of time, often resulting in partial flexion of the knee at the start of the stance phase of walking); (5) shoulder elevation (a sustained posture that consisted of raising one or both shoulders upward toward the ear), (6) internal rotation of the shoulder, with elbow extension and wrist flexion (a sustained posture that resulted in arm extension, usually behind the patient's back); (7) trunk flexion; (8) ''handbagging'' (a sustained posture that resulted in internal rotation of the shoulder[s] and flexion of one or both elbows and wrists as if the patient were holding a handbag); (9) blepharospasm; (10) torticollis; (11) spasmodic dysphonia; and (12) jaw opening or closing dystonia.…”

“…In addition, the distribution of the dystonia and the types of movements or postures most typically observed have not been the focal point of previous systematic investigation. Several authors have noted an increase in the severity of dystonia with advancing duration of illness, [4][5][6] and there is one report that cervical dystonia may be the presenting feature of HD. 3 We studied patients with HD who were seen consecutively over a 7-month period at a clinic specializing in the care of patients with HD.…”