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We assayed cryopreserved sera from 38 acetylcholine receptor (AChR) antibody-negative patients with myasthenia gravis (MG) who were followed clinically for muscle-specific tyrosine kinase (MuSK) antibodies and analyzed and compared their clinical characteristics. None of 13 sera from patients with purely ocular MG were positive. Sera from 10 of 25 patients (40%) with generalized MG were positive for MuSK antibodies. The age at onset of myasthenic symptoms was significantly earlier in MuSK antibody-positive patients (P = 0.02). MuSK antibodies were present in AChR antibody-negative patients of either gender, with virtually identical prevalence in women (41.2%) and men (37.5%). The distribution of weakness more commonly involved neck muscles in MuSK antibody-positive patients, and limb muscles in MuSK antibody-negative patients. Patients responded to immunosuppressive treatment regardless of whether MuSK antibody was present. We conclude that MuSK antibodies are present and diagnostically useful in a subset of myasthenic patients without AChR antibodies. Although the distribution of weakness differs somewhat depending on whether MuSK antibodies are present, responses to anticholinesterase and immunosuppressive treatments are similar.

Original publication

DOI

10.1002/mus.20069

Type

Journal article

Journal

Muscle Nerve

Publication Date

07/2004

Volume

30

Pages

55 - 60

Keywords

Adult, Aged, Autoantibodies, Biomarkers, Child, Preschool, Cholinesterase Inhibitors, Female, Humans, Immunosuppressive Agents, Male, Middle Aged, Muscle Weakness, Myasthenia Gravis, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic