Coexistence of anti-musk-positive bulbar myasthenia gravis and myotonic dystrophy Type 1: the first case report from Türkiye

Authors : Esra Demir Ünal

Pages : 804-808

Doi:10.31362/patd.1434678

View : 101 | Download : 153

Publication Date : 2024-10-09

Article Type : Other Papers

Abstract :Muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) is an acute-onset subtype of MG that primarily affects the fasciobulbar muscles and begins with progressive velopharyngeal and respiratory symptoms such as early respiratory crises, swallowing, and speaking difficulties. Myotonic dystrophy Type 1 (DM1) is an autosomal dominantly inherited autoimmune neuromuscular disease characterized by distal-dominant muscle weakness, cardiovascular pathologies, and corneal disorders. In this case report, we discussed a 42-year-old female patient with a previous diagnosis of DM1 and diagnosed with MuSK-MG as a result of electroneuromyographic and antibody tests upon the development of bulbar symptoms and thymus hyperplasia. The patient underwent video-assisted thymectomy, and medical treatment was started with a combination of pyridostigmine and methylprednisolone. The coexistence of anti- MuSK positive MG with thymoid hyperplasia and DM 1 has not been reported so far, and it has been predicted that both diseases may trigger each other through neuroinflammatory mechanisms on an autoimmunergic basis.
Keywords : Otoimmünite, kas spesifik tirozin kinaz miyastenia gravis, miyotonik distrofi Tip 1, nöroinflamasyon, timus hiperplazisi