A Case of MuSK Myasthenia Gravis Presenting With Persistent Respiratory Insufficiency
| Autor: | James F. Howard, Anahit Mehrabyan, Carolyn Tsai |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
medicine.medical_specialty Neurology Neuromuscular transmission Quality of life Prednisone Myasthenia Gravis medicine Humans Receptors Cholinergic Respiratory system Autoantibodies Plasma Exchange business.industry Receptor Protein-Tyrosine Kinases General Medicine medicine.disease Myasthenia gravis Bulbar weakness Anesthesia Quality of Life Rituximab Female Neurology (clinical) business Respiratory Insufficiency medicine.drug |
| Zdroj: | Journal of clinical neuromuscular disease. 23(1) |
| ISSN: | 1537-1611 |
| Popis: | Muscle-specific kinase (MuSK) antibody is seen in 4%-10% of patients with myasthenia gravis (MG), with 40% of these patients reporting bulbar weakness as the initial symptom. We present the case of a 40-year-old woman with MuSK MG whose only presenting symptom was progressive respiratory insufficiency necessitating BiPAP use 16-24 hours daily. She was unresponsive to treatment for cardiac and pulmonary causes and thus referred to neurology. Initial workup directed toward autoimmune and genetic myopathies was unrevealing. MuSK antibodies were positive (60.7 nmol/L, nl 0.00-0.02). Electrodiagnostic studies were unremarkable other than single fiber electromyography which was consistent with a defect in neuromuscular transmission. Treatment with prednisone, plasma exchange, and rituximab led to improvement to reliance on BiPAP only at night. However, her most treatment refractory and quality of life limiting symptom continues to be respiratory insufficiency. Further investigation to better characterize differential response to treatment in this subset of patients with MuSK MG may be needed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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