Case study finds NXP2 antibodies in patient with myopathies in early infancy, highlighting diagnostic challenges.
Background/Purpose: Neuromuscular diseases (NMDs) in the neonatal period or early infancy are characterized by hypotonia and weakness. They include congenital myopathies, muscular dystrophies and myasthenic syndromes, SMA I, M. Pompe, mitochondriopathies, and, rarely, autoimmune diseases. Diagnostic challenges include negative genetic findings, incomplete phenotypes, and borderline antibody results. We report on a patient (3 years) with dysphagia, progressive weakness, exercise intolerance, social withdrawal, and general misery. Hypotonia and feeding problems have been present since the neonatal period. Neurological examination revealed proximal weakness and myopathic facies. CK levels were repeatedly normal. Muscle ultrasound, NCS, metabolic and myasthenia antibody testing, EEG, and trio-exome were unremarkable. Myositis-specific antibody testing revealed NXP2 antibodies, but whole-body MRI was normal. Evaluation of NXP2 antibody findings.
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Didt et al. (2025) studied this question.
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