Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves' disease

Neurol Neurochir Pol. 2017 Mar-Apr;51(2):190-193. doi: 10.1016/j.pjnns.2017.01.007. Epub 2017 Feb 3.

Abstract

A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles. Myotonic dystrophy (MD) diagnosis was confirmed by genetic testing and myasthenia gravis (MG) by a positive titer of cholinergic receptor autoantibodies. In the CSF concentration of hypocretin was significantly decreased.

Keywords: Graves’ disease; Hypocretin; Myasthenia gravis; Myotonic dystrophy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Autoantibodies / blood
  • Comorbidity
  • Disorders of Excessive Somnolence / diagnosis*
  • Disorders of Excessive Somnolence / genetics
  • Electromyography
  • Female
  • Genetic Testing
  • Graves Disease / diagnosis*
  • Graves Disease / genetics
  • Humans
  • Male
  • Muscle Weakness / diagnosis
  • Myasthenia Gravis / diagnosis*
  • Myasthenia Gravis / genetics
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics
  • Neurologic Examination
  • Receptors, Cholinergic / immunology

Substances

  • Autoantibodies
  • Receptors, Cholinergic