Myasthenia Gravis Presenting as Lutz Posterior Internuclear Ophthalmoplegia
Conclusion: The combination of physician-evaluated and patient-reported outcome measures provided a more discerning picture of patient status and response to treatment. Incorporating MG outcome measures into clinical practice would aid in modulating therapies.
We report a 90-year-old female who presented with generalized chorea, blepharospasm, and parkinsonism. Extensive evaluation was done which showed an elevation in striational antibody and there was no evidence of malignancy. The patient responded dramatically to intravenous steroids. We suggest that striational antibody should be routinely tested as a part of the work-up for autoimmune or paraneo lastic movement disorder. The presence of chorea in a very elderly patient should not be dismissed as “senile chorea” and a search for treatabl etiology should always be performed.
We describe a case of a 43-year-old African American female with MG who was brought in for shortness of breath. History included MG diagnosed twelve years prior to the current presentation and a history of seven intubations. The patient was admitted to the ICU and intubated. She endorsed poor sleep, easy fatigability, and feeling hopeless in the context of psychosocial stressors-being single, homeless, and unemployed. The patient was started on Zoloft 50 mg per oral daily for depression and Atarax 50 mg per oral three times a day for anxiety. The patient responded well to the treatment and was discharged on d...
Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of the neuromuscular transmission. Although clinical manifestations vary by subtype, CMS are usually characterized by fatigable muscle weakness (ocular, bulbar, limb muscles) with onset at birth or in early childhood; rarely, symptoms may present later. The main proteins involved in the pathogenesis of CMS are: choline acetyltransferase (ChAT), the endplate species of acetylcholinesterase (AChE), β2-laminin, the acetylcholine receptor subunits (CHRNA, CHRNB, ...
Myasthenia Gravis (MG) is an autoimmune disease of the neuromuscular junction (NMJ), with autoantibodies binding proteins in the NMJ detected in ∼85% of the patients. However, 10-15% of MG patients present with no known antibodies [1,2]. Congenital myasthenic syndromes (CMS), in turn, are disorders of the NMJ due to various genetic defects in components essential for NMJ structure and function. Symptoms in CMS patients typically start shor tly after birth or during childhood, with an adult onset being rarer.
ConclusionsCYC was effective in all patients with refractory MG for a mean of 9 months, with worsening thereafter, which could be associated with low cumulative dose. The symptomatic improvement with CYC was noted within the 1st month. We conclude that CYC is effective as an induction to remission therapy, although our data suggest it is not effective as a long-term therapy.
In conclusion, our study summarizes the regulatory transcription factors that drive expression of AChR+ and MuSK+ MG-associated miRNAs. Our findings of elevated miR-21-5p and miR-30e-5p expression in immune cells upon inflammatory stimulation and the suppressive effect of corticosteroids strengthens the putative role of these miRNAs in the MG autoimmune response.
Current therapies for myasthenia gravis (MG) are limited, and many investigations have recently focused on target-specific therapies. B cell-targeting monoclonal antibody (mAb) therapies for MG are increasingly attractive due to their specificity and efficacy. The targeted B cell biomarkers are mainly the cluster of differentiation (CD) proteins that mediate maturation, differentiation, or survival of pathogenic B cells. Additional B cell-directed therapies include non-specific peptide inhibitors that preferentially target specific B cell subsets. The primary goals of such therapies are to intercept autoantibodies and prev...
ConclusionThis rare case of sclerosing thymoma is an unusual case since it has follow up information for an eight year period due to the misdiagnosis of goiter. The follow up visits showed significant regression of the tumor over the eight year period without treatment; however, the etiology of sclerosis and regression remain unknown. The patient was treated by thymectomy with no recurrence after 12 months.