Not Just Another Aspiration Pneumonia: Oculopharyngeal Muscular Dystrophy

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic myopathy of adulthood onset which presents as late-onset ptosis, dysphagia and family history of ptosis and dysphagia. It occurs due to the poly(A) binding nuclear protein 1 (PABPN1) gene mutation. A 75-year-old male presented with complaints of fever, cough and worsening dysphagia. His father and paternal grandfather both had a history of ptosis and dysphagia. He was febrile, tachypneic and bilateral ptosis was noticed. The chest CT revealed consolidation. A modified barium swallow showed frank tracheal aspiration. An acetylcholine receptor antibody test was negative. An electromyogram and nerve conduction study revealed a generalized myopathic process with the absence of myotonia. With a history of adult-onset bilateral ptosis and progressive dysphagia along with the positive family history of ptosis and dysphagia, there was a strong suspicion for OPMD. Genetic testing was performed, which was positive as it detected GCG expansion in the PABPN1 gene, which is associated with OPMD and thus the diagnosis of OPMD was established. Malnutrition and recurrent aspiration are potential and harmful complications that reduce the life expectancy of these patients.




J Med Cases. 2017;8(12):378-380
doi: https://doi.org/10.14740/jmc2928w