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Transcript

Siri Apple & Myasthenia Gravis

Created by Dr. KT Lemon

Siri's Treatment

Meet Siri

Siri's Test Results

Why Myasthenia Gravis

Myasthenia Gravis Facts

References

MG Practice Quiz

Meet Our Patient

Name: Siri Apple Sex: FemaleRace: Mixed-race Initial ER Visit: March 11, 2020Initial Problems: Slurred speech, drooping eyelid, double vision, inability to hold her head up, and a snarled smileAutoimmune Diagnosis Date: July 2023

Picture of Siri showing her drooping eyelid and snarled smile

Siri's Diagnosis: Myasthenia Gravis

A rheumatologist diagnosed Siri with the autoimmune disease, myasthenia gravis, using several tests.

Test 1: The ice pack test

An ice pack is placed on Siri's eyelid.

Before

After

The ice pack test results

Siri's eyelid improved after the ice pack test, which ruled out several conditions. A well-versed physician would know that such a positive outcome pointed towards the autoimmune condition, myasthenia gravis.

Siri's Diagnosis: Myasthenia Gravis

Test 2: serum antibody

The serum antibody test determined that Siri's plasma cells are producing two types of pathogenic autoantibodies. The first is the anti-AChR antibodies that are destroying her acetylcholine receptors. Siri's body also produces autoantibodies blocking a protein called MuSK, which is involved in forming nerve-muscle junctions. Without those acetylcholine receptors and nerve-muscle junctions, her muscles are receiving fewer nerve signals, which could be the cause of her neck and eyelid weakness.

serum antibody test results

A sample of Siri's blood was taken and sent to a lab to test for autoantibodies.

Sample blood panel

Siri's Diagnosis: Myasthenia Gravis

Test 3: SFEMG

These results indicate that there is a marked decline in Siri's action potential in her muscles.

Single-fiber electromyography (SFEMG) involves the insertion of a small electrode into a single muscle fiber used to test muscle response to a repetitive stimulus.

SFEMG results

Siri has and/or has had most of the common symptoms associated with Myasthenia Gravis (MG) as indicated by the list to the left. Most cases of this incurable autoimmune disease have no known cause although for those with a familial history, certain genes (PTEN and ABL) have been implicated. In Siri's case, no one in her family has MG so it is not likely her case is a familial one.

COMMON mg SYMPTOMS

Why Myasthenia Gravis Fits

The items with checkmarks correspond to Siri's case.

  • MG is an organ-specific autoimmune condition that is caused by overactive B cells that produce autoantibodies against the acetylcholine receptor at the neuromuscular junction and others that block MuSK, a protein important in forming nerve-muscle junctions.
  • Because tissue injury in MG is caused by antibodies against self, MG is considered a Type II autoimmune reaction.
  • Risk Factors:
    • Other autoimmune diseases such as lupus and rheumatoid arthritis
    • Medications such as antibiotics, malaria treatments, and psychiatric drugs
    • Thyroid issues
  • Many people with MG live normal lives with treatment.
  • The updated prevalence and incidence of MG are higher in the US than previous reports from the 1980s and early 2000s, following a global trend of increased prevalence and incidence for this disorder in the last few decades.

Myasthenia Gravis Facts

  • According to the American Autoimmune Related Diseases Association (AARDA), it takes, on average, 4.5 years to diagnose an autoimmune disease, and patients typically see at least four physicians during that time.
  • Myasthenia gravis (MG) is a hard disease to diagnose because it often presents differently in each patient and its symptoms resemble those of numerous conditions. Siri’s symptoms changed multiple times from the initial onset to 2023, which complicated her diagnosis. Most people with MG first experience double vision and drooping of one or both eyelids, like Siri. Others first experience impaired speaking or the inability to chew. Some people, like Siri, express autoantibodies, while others do not. And because autoimmune diseases like MG affect multiple organs and systems, symptoms can often be misleading.
  • Due to the cost of SFEMG, it is not a routine test ordered unless there is an initial suspicion of neurological disease. Add to these things that Siri's first issues started during a global pandemic, and healthcare workers were stressed and many practices were understaffed.

March 2020-July 2023: Why so long?!

  • Rest - should help with fatigued muscles
  • Avoid stress as it can aggravate MG
Siri was prescribed the following drugs and was instructed to take them for three months; after which, adjustments would be made if needed:
  • Pyridostigmine - will increase communication between Siri's nerves and muscles. This should help with her drooping eyelid, impaired speaking, and neck weakness.
    • Eating something with this one is highly recommended since it can cause gastrointestinal upset and nausea.
  • Prednisone & azathioprine- will limit antibody production. Limiting the antibody production should help with all of Siri's symptoms.
    • Prednisone is added because it can take months before azathioprine begins working. When it does begin working, prednisone will be stopped.

Siri's Treatment

Treatment Options for MG

QR Code for the Quiz

Myasthenia Gravis

Link for the Quiz

References

  1. Rone, A., & Foltz, T. (n.d.). Myasthenia Gravis, the Great Masquerader: a Teaching Case Report | 1.
  2. Fichtner, M. L., Jiang, R., Bourke, A., Nowak, R. J., & O’Connor, K. C. (2020, May 27). Autoimmune Pathology in Myasthenia Gravis Disease Subtypes Is Governed by Divergent Mechanisms of Immunopathology. Frontiers in Immunology, Vol. 11. https://doi.org/10.3389/fimmu.2020.00776
  3. Huda, S., Cao, M., De Rosa, A., Woodhall, M., Rodriguez Cruz, P. M., Cossins, J., … Vincent, A. (2020). SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody. Neurology(R) Neuroimmunology & Neuroinflammation, 7(1). https://doi.org/10.1212/NXI.0000000000000645
  4. Lo, Y. L., Najjar, R. P., Teo, K. Y., Tow, S. L., Loo, J. L., & Milea, D. (2017). A reappraisal of diagnostic tests for myasthenia gravis in a large Asian cohort. Journal of the Neurological Sciences, 376, 153–158. https://doi.org/10.1016/j.jns.2017.03.016
  5. Xu, S., Wang, T., Lu, X., Zhang, H., Liu, L., Kong, X., … Wang, L. (2021). Identification of LINC00173 in Myasthenia Gravis by Integration Analysis of Aberrantly Methylated- Differentially Expressed Genes and ceRNA Networks. Frontiers in Genetics, 12. https://doi.org/10.3389/fgene.2021.726751
  6. Myasthenia gravis - Diagnosis - NHS. (n.d.). Retrieved March 28, 2022, from https://www.nhs.uk/conditions/myasthenia-gravis/diagnosis/
  7. Rodrigues, E., Umeh, E., Aishwarya, Navaratnarajah, N., Cole, A., & Moy, K. (2024). Incidence and prevalence of myasthenia gravis in the United States: A claims-based analysis. Muscle & nerve, 69(2), 166–171. https://doi.org/10.1002/mus.28006

MyastheniaGravis