RT Journal Article
SR Electronic
T1 Association of Sjögren’s syndrome with myotonic dystrophy type 1
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e229611
DO 10.1136/bcr-2019-229611
VO 12
IS 8
A1 Elizabeth A Kitsis
A1 Fabreena Napier
A1 Viral Juthani
A1 Howard L Geyer
YR 2019
UL http://casereports.bmj.com/content/12/8/e229611.abstract
AB A 47-year-old woman presented with sicca symptoms, polyarthralgias, polymyalgias and dysphagia. She was found to have positive antinuclear, anti-SSA-Ro and anti-SSB-La antibodies. Slit lamp exam confirmed the presence of keratoconjunctivitis sicca, and the patient was diagnosed with Sjögren’s syndrome. Three years later, she was referred for evaluation of gait instability associated with recent falls. On physical examination, the patient was found to have bilateral ptosis, percussion myotonia, distal upper and lower extremity weakness, and a steppage gait. Electromyography demonstrated electrical myotonia. Genetic testing revealed expanded CTG repeats (733 and 533) in the myotonic dystrophy type 1 (DM1) protein kinase gene, confirming the diagnosis of DM1. Dysphagia, pain and eye discomfort may occur in both Sjögren’s syndrome and DM1, and in this case, may have delayed the diagnosis of muscular dystrophy.