Unusual myasthenia gravis phenotypes

Evidence-based neurology checklist on unusual myasthenia gravis phenotypes: Ophthalmoplegic phenotype This is usually with anti-AChR antibody positive cases It is also seen with anti-MUSK and seronegative patients It is more prevalent in patients with juvenile onset MG and of African ancestry It…

Ophthalmoplegic phenotype

  • This is usually with anti-AChR antibody positive cases
  • It is also seen with anti-MUSK and seronegative patients
  • It is more prevalent in patients with juvenile onset MG and of African ancestry
  • It is usually resistant to treatment

Unusual cranial phenotypes

Distal phenotypes

Unusual limb phenotypes

Unusual MG associations

Post-thymectomy myasthenia gravis

Myasthenia gravis-inflammatory myosotis (MG-IM) overlap syndrome

Other overlap syndromes

Foetal acetylcholine receptor inactivation syndrome

References

  1. Heckmann JM, Nel M. A unique subphenotype of myasthenia gravis. Ann N Y Acad Sci 2018; 1412:14-20. 
  2. Nel M, Jalali Sefid Dashti M, Gamieldien J, Heckmann JM. Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis. Neuromuscul Disord 2017; 27:816-825.
  3. Burch J, Warren-Gash C, Ingham V, Patel M, Bennet D, Chaudhuri KR. Myasthenia gravis-a rare presentation with tongue atrophy and fasciculation. Age Ageing 2006; 35:87-88.
  4. Davison SP, McDonald TJ, Wolfe ME. Swollen tongue: a presentation of myasthenia gravis. Otolaryngol Head Neck Surg 1997; 116:244-246.
  5. Leon-Sarmiento F, Bayona EA, Bayona-Prieto J, Osman A, Doty RL. Profound olfactory dysfunction in myasthenia gravis. PLoS One 2012; 7:e45544.
  6. And 43 more. Subscribe to see the full list

Related checklists

Loading...