Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report

Abstract

Rationale: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Underdiagnosis of OPMD is common in Asian countries and results in delayed diagnoses and fatal events.

Patient concerns: Here, we report the case of a 53-year-old female who suffered from progressive dysphagia and experienced several choking events involving solid material. An extensive family history of dysphagia was noted, and 2 family members had died as a result of aspiration.

Diagnoses: PABPN1 genotyping and DNA sequence analysis revealed a heterozygous (GCG)10(GCA)3GCG mutation that led to the diagnosis of OPMD.

Interventions: Rehabilitation exercises, namely, the Shaker exercise and the Masako maneuver, were suggested.

Outcomes: Improved swallowing ability with safe food intake was noted after 2 months of training. Surgical intervention will be considered when progression of the disease is noted.

Lessons: Underdiagnosis and a lack of awareness of OPMD may lead to choking, aspiration pneumonia, and death in multiple members of affected families. Currently, there is no definitive treatment for OPMD, but rehabilitation exercises and surgical intervention are helpful in relieving dysphagia.

Figure 1

Pedigree of the family. The family tree shows the affected (black) and asymptomatic (blank) members. Squares indicate males, and circles indicate females. An autosomal dominant inheritance pattern can be seen in the pedigree. III-8 is the proband (arrow). II-4, II-6, and III-8 underwent blepharoplasty because of progressing ptosis. I-2 and II-1 died of choking events related to the disease.

Figure 2

Results of the video fluoroscopic swallowing study. Material contact with vocal cord (black arrow) can be seen in the video fluoroscopic swallowing study before the commencement of the rehabilitation program. Much vallecular and pyriform sinus residue (white arrow) can be seen in the video clip. Upper esophageal sphincter dysfunction and poor laryngeal elevation are common findings noted in video fluoroscopic swallowing studies of OPMD patients.

Figure 3

PABPN1 DNA fragment analysis. Numbers beneath each peak is the estimated size of DNA fragments. PABPN1 genotyping from the patient showed one allele with normal (GCG)₆(GCA)₃(GCG)₁ sequence with fragment of 241.49 (241 base pair), and one allele with mutated (GCG)₁₀(GCA)₃(GCG)₁ sequence, 252.94 (253 base pair), which is 12 base pair longer.

Figure 4

Sequence analysis of genomic DNA. The patient's heterozygous (GCG)₁₀(GCA)₃(GCG) ₁ expansion is compared with the homozygous PABPN1 gene sequence in healthy individuals. Within the red arrows are the normal (GCG)₆ sequence. Note the frameshift mutation of (GCG)₄ started after the red arrow in the abnormal allele.