In-office botulinum toxin injection achieved a 90.6% cumulative success rate in treating retrograde cricopharyngeus dysfunction, according to new findings. 

A prospective case series of 106 patients found that symptoms typically emerge early in life, with a mean age onset of 13.6 years; however, diagnosis is often delayed until a mean age of 30.4 years.

"Retrograde cricopharyngeus dysfunction (R-CPD) is an emerging and poorly known disorder associated with high rates of ineffective consultations, additional examinations, and self-diagnosis by patients," the study authors noted in the study published in JAMA Otolaryngology–Head & Neck Surgery.

The researchers revealed that 64.2% of cases were potentially congenital, based on testimonies confirming the inability to burp during childhood. Additionally, among 62 patients with complete family histories, 29% reported having a first-degree relative with R-CPD.

Patient presentation included multiple symptoms beyond the inability to burp: 94.3% experienced bloating, 93.4% reported gurgling noises, 90.6% had excessive flatulence, and 80.2% experienced chest pain. The condition significantly impacted quality of life, with 81.1% of patients finding partial symptom relief only when lying supine.

The research highlighted substantial diagnostic challenges. Among the 106 patients, 99.1% ultimately diagnosed themselves through internet research, despite numerous medical consultations (mean = 1.64 per patient) and various diagnostic procedures. Forty-two percent had undergone gastrointestinal endoscopy without receiving an R-CPD diagnosis.

Regarding treatment outcomes, the initial botulinum toxin injection (BTI) provided total symptom relief in 55.7% of patients and partial relief in 28.3%. While 24.5% required additional injections, the overall success rate reached 90.6%. The primary adverse effect was temporary dysphagia, occurring in 70.6% of injections and lasting an average of 16.3 days.

The researchers noted study limitations, including shorter follow-up periods for some patients and the need for standardized BTI dosing protocols. Future pediatric investigations are needed to understand the congenital development of R-CPD.

The authors declared having no competing interests.