A 54-year-old woman was admitted to the emergency department of a hospital in Porto, who had been experiencing progressive asthenia and episodes of falls for four months, and shortness of breath for five days. Examination revealed an enlarged tongue (macroglossia), as well as a drooping head, indicating weakness in the neck muscles, and moderate symmetrical weakness in the proximal parts of the limbs.
Laboratory tests showed an increase in creatine kinase levels to 373 units per liter (normal — up to 173). Magnetic resonance imaging revealed fatty infiltration in both the tongue and the paraspinal muscles. Due to suspicion of metabolic myopathy, the patient underwent a biopsy of the deltoid muscle pending the results of enzyme and genetic tests.
This clinical case was described by doctors Sofia Rodrigues and Inês Marques Ferreira from the Santo António University Hospital Center in Porto in the scientific journal The New England Journal of Medicine.