Severe Scoliosis As the Clue for an Early Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) Diagnosis During Childhood: A Case Report

We present a novel case of a school-aged boy with scoliosis and progressive muscle weakness, featuring new onset hypotonia and respiratory distress. Genetic analysis revealed two heterozygous variants in the MEGF10 gene: one known pathogenic variant and one novel missense variant. This case illustrates the heterogeneous phenotype of early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), according to the mutations associated, and underscores the importance of early genetic testing. Among the few cases described in the literature, few report symptom onset and diagnoses after the first years of life, unlike the case reported here. Additionally, this report alerts for the suspicion of myopathy in children with severe scoliosis and recurrent respiratory infections and revises the current knowledge of EMARDD, emphasizing the necessity for comprehensive and timely treatment approaches.