Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations—A Systematic Review

Background: This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches. Dysphagia can arise from various etiologies, including those related to the central nervous system, inflammatory and neoplastic processes, anatomical or structural disorders, and neuromuscular conditions. These diverse etiologies can result in both structural and functional deficits or neurological impairments that compromise swallowing function. While RDS frequently leads to uncommon conditions, dysphagia remains an underrecognized complication. Objectives: The primary objective of this review is to illuminate the latest knowledge concerning the management of dysphagia in both pediatric and adult populations within the context of RDS, with a particular focus on current therapeutic approaches. To achieve this, the study provides a comprehensive analysis of existing strategies for managing dysphagia in RDS, highlighting recent advancements in therapy while identifying critical gaps in clinical knowledge and practice. By synthesizing available evidence, the review aims to deepen understanding of the unique challenges associated with dysphagia in these conditions and explore innovative interventions to enhance patient care and outcomes. Results: The integration of innovative therapeutic techniques into the speech-language pathology treatment of dysphagia augments traditional strategies, offering updated knowledge that can be applied to prognosis and therapeutic interventions across various ages and racial groups. This review also provides an overview of symptomatology, assessment techniques, and the specific characteristics of dysphagia associated with various genetic and acquired RDS.