Myoglobinopathy affecting facial and oropharyngeal muscles

Neuromuscul Disord. 2022 Jun;32(6):516-520. doi: 10.1016/j.nmd.2022.02.010. Epub 2022 Feb 24.


Myoglobinopathy is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features associated with myoglobinopathy include characteristic sarcoplasmic bodies in skeletal and cardiac muscles. Here we present the first case of myoglobinopathy in an Asian individual. Although myoglobinopathy patients were reported not to have facial muscle weakness, our patient had orbicularis oculi muscle weakness, tongue weakness and atrophy, poor movement of the soft palate, and dysarthria. This is also the first reported case of tube feeding in a patient with myoglobinopathy. The patient started NPPV 18 years after onset, indicating that an older age of onset may have resulted in slow disease progression. Muscle selectivity, characteristic muscle pathology, and progressive cardiopulmonary dysfunction and dysphagia are hallmarks of this disease.

Keywords: Cardiopulmonary dysfunction; Dysphagia; Facial muscle weakness; Myoglobinopathy; Sarcoplasmic body.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Dysarthria
  • Facial Muscles
  • Humans
  • Muscle Weakness* / diagnosis
  • Muscle Weakness* / etiology
  • Muscle Weakness* / pathology
  • Muscle, Skeletal / pathology
  • Muscular Diseases* / pathology