Association of Sjögren's syndrome with myotonic dystrophy type 1

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article numbere229611
JournalBMJ case reports
Volume12
Issue number8
DOIs
StatePublished - Aug 1 2019

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Myotonia
Myotonic Dystrophy
Deglutition Disorders
Gait
Eye Pain
Keratoconjunctivitis Sicca
Muscular Dystrophies
Delayed Diagnosis
Arthralgia
Genetic Testing
Electromyography
Protein Kinases
Physical Examination
Lower Extremity
Antibodies
Genes
Slit Lamp

Keywords

  • muscle disease
  • neurology
  • ophthalmology
  • rheumatology
  • Sjogren's syndrome

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Association of Sjögren's syndrome with myotonic dystrophy type 1. / Kitsis, Elizabeth A.; Napier, Fabreena; Juthani, Viral V.; Geyer, Howard.

In: BMJ case reports, Vol. 12, No. 8, e229611, 01.08.2019.

Research output: Contribution to journalArticle

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