Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathic genetic disorder characterized by chronic progressive dysphagia and ptosis with or without proximal limb weakness. It is most often caused by an abnormal alanine-encoding (GCN) trinucleotide repeat expansion in the first exon of the poly(A)-binding protein nuclear 1 (PABPN1) gene. Patients with hypothyroidism may similarly report bilateral ptosis, dysphagia, and limb weakness. Here, we report the case of a 65-year-old Austrian female with hypothyroidism living in the Philippines who presented with gradually progressive ptosis, dysphagia, and intermittent choking episodes. No known relatives had similar symptoms. Physical examination showed bilateral symmetric ptosis, good cough reflex, and good limb muscle strength. Electromyographic studies of facial and laryngeal muscles were found to be normal. Thyroid evaluation showed biochemically hyperthyroid status while taking Levothyroxine. With a clinical suspicion for genetic progressive myopathy, we considered OPMD. Genetic testing revealed abnormal expansion of GCN trinucleotide repeats in the PABPN1 gene. We describe the first reported case of OPMD with detected PABPN1 gene expansion in the Philippines simulating hypothyroidism symptoms, suggesting possible points for misidentification and underdiagnosis of OPMD in developing countries.