Pulmonary function in patients with Huntington's disease.

BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor, cognitive and psychiatric disturbances. Chest muscle rigidity, respiratory muscle weakness, difficulty in clearing airway secretions and swallowing abnormalities have been described in patients with neurodegenerative disorders including HD. However limited information is available regarding respiratory function in HD patients. The purpose of this study was to investigate pulmonary function of patients with HD in comparison to healthy volunteers, and its association with motor severity.

METHODS: Pulmonary function measures were taken from 18 (11 male, 7 female) manifest HD patients (53 ± 10 years), and 18 (10 male, 8 female) healthy volunteers (52 ± 11 years) with similar anthropometric and life-style characteristics to the recruited HD patients. Motor severity was quantified by the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS). Maximum respiratory pressure was measured on 3 separate days with a week interval to assess test-retest reliability.

RESULTS: The test-retest reliability of maximum inspiratory and expiratory pressure measurements was acceptable for both HD patient and control groups (ICC ≥0.92), but the values over 3 days were more variable in the HD group (CV < 11.1%) than in the control group (CV < 7.6%). The HD group showed lower respiratory pressure, forced vital capacity, peak expiratory flow and maximum voluntary ventilation than the control group (p < 0.05). Forced vital capacity, maximum voluntary ventilation and maximum respiratory pressures were negatively (r = -0.57; -0.71) correlated with the UHDRS-TMS (p < 0.05).

CONCLUSION: Pulmonary function is decreased in manifest HD patients, and the magnitude of the decrease is associated with motor severity.