Unusual myasthenia gravis phenotypes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Unusual myasthenia gravis phenotypes. This is usually with anti-AChR antibody positive cases. Fully referenced neurology checklist.
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
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Distal phenotypes
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Unusual limb phenotypes
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Unusual MG associations
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Post-thymectomy myasthenia gravis
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Myasthenia gravis-inflammatory myosotis (MG-IM) overlap syndrome
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Other overlap syndromes
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Foetal acetylcholine receptor inactivation syndrome
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References
- Heckmann JM, Nel M. A unique subphenotype of myasthenia gravis. Ann N Y Acad Sci 2018; 1412:14-20.
- 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.
- 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.
- Davison SP, McDonald TJ, Wolfe ME. Swollen tongue: a presentation of myasthenia gravis. Otolaryngol Head Neck Surg 1997; 116:244-246.
- Leon-Sarmiento F, Bayona EA, Bayona-Prieto J, Osman A, Doty RL. Profound olfactory dysfunction in myasthenia gravis. PLoS One 2012; 7:e45544.
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