Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. 2016

Lingling Cao, and Yanling Wang, and Xiaofeng Liu, and Yanxia Hu, and Nianchun Li, and Guoping Qiu, and Yun Luo, and Weidong Li
From the Department of Medicine, The First Hospital of Jiujiang City, Jiujiang, 332000, China (LC, YW, XL, YH, NL, GQ, YL); Key Laboratory of System Biomedicine of Jiangxi Province, Medical College, Jiujiang University, Jiujiang, 332000, China (WL).

Myasthenia gravis (MG) is an autoimmune neuromuscular junction disorder which is characterized by fluctuating muscle fatigue. However, the association of MG with nemaline myopathy is rarely reported. Here we report a case of MG coexisting with adult-onset nemaline myopathy. A 55-year-old man endured fluctuating muscle weakness with positive acetylcholine receptor and titin antibodies. After the patient was administrated cholinergic drugs and immunosuppression, the muscle weakness of the patient had mildly been alleviated. Electromyography showed a progressive decrement in the amplitude of muscle action potential at low frequency. Muscle biopsy showed numerous nemalines in the muscle fibers. This is the first reported case of nemalines present in the muscle fibers of adult patient with MG. The pathogenesis of nemaline may be related to titin antibody in adult-onset nemaline myopathy with MG.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009157 Myasthenia Gravis A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition. Anti-MuSK Myasthenia Gravis,MuSK MG,MuSK Myasthenia Gravis,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle-Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Generalized,Myasthenia Gravis, Ocular,Anti MuSK Myasthenia Gravis,Generalized Myasthenia Gravis,Muscle Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Anti-MuSK,Myasthenia Gravis, MuSK,Ocular Myasthenia Gravis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017696 Myopathies, Nemaline A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) Myopathy, Nemaline,Myopathy, Rod,Myopathy, Rod-Body,Nemaline Myopathies,Adult Onset Nemaline Myopathy,Autosomal Dominant Nemaline Myopathy,Autosomal Recessive Nemaline Myopathy,Childhood Onset Nemaline Myopathy,Late Onset Nemaline Myopathy,Nemaline Body Disease,Nemaline Myopathy,Nemaline Myopathy, Adult Onset,Nemaline Myopathy, Autosomal Dominant,Nemaline Myopathy, Autosomal Recessive,Nemaline Myopathy, Childhood Onset,Nemaline Myopathy, Late Onset,Nemaline Rod Disease,Rod Body Disease,Rod Myopathy,Rod-Body Myopathy,Myopathies, Rod,Myopathies, Rod-Body,Myopathy, Rod Body,Rod Body Myopathy,Rod Myopathies,Rod-Body Myopathies
D018908 Muscle Weakness A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251) Muscular Weakness,Muscle Weaknesses,Muscular Weaknesses,Weakness, Muscle,Weakness, Muscular,Weaknesses, Muscle,Weaknesses, Muscular

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