200 Section - Ventilatory profile and Assisted Cough Interventions in Huntington’s Disease: Literature Review and Clinical Cases

Huntington’s disease (HD) is a progressive neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric manifestations. Respiratory involvement, including restrictive ventilatory patterns, reduced respiratory muscle strength, impaired cough effectiveness, and dysphagia affecting oral and pharyngeal phases, significantly increases the risk of aspiration, respiratory infections, and functional decline. These alterations likely result from dystonia, bradykinesia, chorea, and neuromuscular discoordination. 

Objective: To review current evidence on ventilatory function, swallowing, and cough impairment in HD, and to illustrate the clinical impact of respiratory physiotherapy combined with assisted cough interventions through two patient cases.

Design:

AA systematic literature review was conducted in PubMed, Embase, and Scopus using the keywords “Huntington’s disease,” “respiratory function,” “dysphagia,” “cough,” “airway protection,” and “assisted cough.” Studies reporting spirometry, respiratory muscle strength, cough effectiveness, or swallowing assessments were included. Studies without data on ventilation or pulmonary function, or reports lacking objective respiratory measurements, were defined as exclusion criteria. Two patients with genetically confirmed HD were assessed for ventilatory function, swallowing safety, cough effectiveness, and response to physiotherapy and assisted cough techniques.

Results:

 HD commonly involves cough impairment and dysphagia, compromising airway protection. Case 1, a 36-year-old female with tetraparesis, mild dysarthria, and severe dysphagia managed with PEG and cough assist, maintained peak cough flow at 126 L/min with respiratory physiotherapy, preventing aspiration. Case 2, a 72-year-old female with absent voluntary cough and severe dysphagia, received twice-daily assisted cough and targeted physiotherapy, resulting in stable respiratory health and no infections over six months.

Conclusion: Ventilatory impairment, dysphagia, and reduced cough effectiveness are interconnected in HD. Early implementation of respiratory physiotherapy combined with assisted cough enhances airway clearance, reduces aspiration risk, and stabilizes functional status. These strategies should be integrated into multidisciplinary care for HD patients.