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CASE REPORT
Association of Sjögren’s syndrome with myotonic dystrophy type 1
  1. Elizabeth A Kitsis1,2,
  2. Fabreena Napier3,4,
  3. Viral Juthani5,6 and
  4. Howard L Geyer3,7
  1. 1 Medicine, Albert Einstein College of Medicine, Bronx, New York, USA
  2. 2 Medicine, Montefiore Medical Center, Bronx, New York, USA
  3. 3 Neurology, Albert Einstein College of Medicine, Bronx, New York, USA
  4. 4 Neurology, Jacobi Medical Center, Bronx, USA
  5. 5 Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, New York, USA
  6. 6 Ophthalmology, Montefiore Medical Center, Bronx, New York, USA
  7. 7 Neurology, Montefiore Medical Center, Bronx, NY, USA
  1. Correspondence to Dr Elizabeth A Kitsis, elizabeth.kitsis{at}einstein.yu.edu

Abstract

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.

  • neurology
  • muscle disease
  • rheumatology
  • Sjogren’s syndrome
  • ophthalmology
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Footnotes

  • Contributors EAK, FN, VJ and HLG contributed to the planning, conduct and reporting of the work described in the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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