Dados do Trabalho

Título

Prevalence of dysarthria, dysphagia and its correlation to tongue strength and endurance in a case series of patients with Pompe disease

Resumo

INTRODUCTION: Pompe's disease is defined by the deficiency of acid alpha-glucosidase (GAA) of autosomal-dominant hereditary inheritance that leads to the gradual and systemic accumulation of glycogen inside the lysosomes and generates a picture of progressive muscle weakness, cardiac disorders, insufficiency breathing and a host of other symptoms. Based on the clinical analysis of patients affected by the disease, the involvement of the orofacial anatomy and its musculature was observed, leading to the condition of tongue strength deficit that can have an outcome of dysphagia and dysarthria.
OBJECTIVE: report the prevalence of dysarthria, dysphagia and its correlation to tongue strength and endurance in a Serie of patients with Pompe disease.
METHOD: Seven patients were evaluated at a neuromuscular rare disease outclinic from a university hospital of Rio de Janeiro, from March 2020 to December 2021. Tongue strength and endurance was evaluated using the Iowa Oral Performance Instrument (IOPI). Speech intelligibility was assessed from spontaneous speech. Dysarthria was characterized as mild, moderate or severe according to the screening of the 5 motor bases of speech. Dysphagia was evaluated using the water swallowing test. Tongue strength and endurance was evaluated using the Iowa oral performance instrument (IOPI).
RESULTS: The average age was 48.42 ± 14.92 years. 42.9% were female (3) and 57.1 male (4). The prevalence of dysarthria was 42.9 % (3), being characterized as mild in all patients. Speech intelligibility was presented in 42.9% (3) of the sample. The prevalence of dysphagia was 28.6 (2). The average strength and resistance of the tongue was low, when compared to the reference values ​​for age (28 ± 11,07 kPa; 10,71 ± 8,03 kPa respectively). The means of tongue strength and resistance were significantly lower in the groups of patients with dysarthria, dysphagia and impaired speech intelligibility.
Conclusion: Low tongue strength and resistance are related to the increased prevalence of dysarthria, dysphagia and impairment on speech intelligibility, which demonstrates the importance of including these measurements in the screening of patients with pompe's disease.

Palavras Chave

Pompe's disease; rare neuromuscular disease; dysphagia; dysarthria

Área

Doenças Neuromusculares