International Journal For Multidisciplinary Research

E-ISSN: 2582-2160   •   Impact Factor: 9.24

A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal

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The Legend of Ondine and the Science of Sleep Without Breath: A Comprehensive Review of Congenital Central Hypoventilation Syndrome

Author(s) Dr. Ishaan Bakshi
Country India
Abstract Ondine’s curse, more formally known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare but life-threatening disorder of autonomic respiratory control most commonly linked to pathogenic variants in the PHOX2B gene. Since its first description in the early 1960s, the condition has evolved from being considered uniformly fatal to one where long-term survival and even transition into adulthood is now possible with the aid of modern ventilatory support and coordinated multidisciplinary care. In this review, we synthesize historical perspectives, current understanding of the genetic and physiological mechanisms underlying CCHS, and the clinical spectrum of disease presentation. We also summarize the diagnostic approaches that have transformed recognition of the syndrome, as well as the management strategies that are now standard of care. To provide a structured overview, we reviewed literature published between 1960 and 2025 across multiple databases and selected studies based on their clinical and scientific relevance. The review highlights how advances in genetic testing, improved respiratory support modalities, and collaborative registries have shaped patient outcomes while also emphasizing the ongoing challenges of lifelong technological dependence, psychosocial burden, and risk of associated comorbidities. Finally, we explore potential future directions, including disease-modifying therapies, refinements in ventilatory technology, and global collaborative networks, which together may redefine the outlook for patients with CCHS in the decades to come.
Keywords Ondine’s curse; Congenital Central Hypoventilation Syndrome; PHOX2B; Autonomic dysfunction; Genetic respiratory disorders
Field Medical / Pharmacy
Published In Volume 7, Issue 4, July-August 2025
Published On 2025-08-23
DOI https://doi.org/10.36948/ijfmr.2025.v07i04.54304
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E-ISSN 2582-2160
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