Infantile-Onset LMNA-Related Congenital Muscular Dystrophy Presenting as Torticollis: A Case Report
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Lamin A (<i>LMNA</i>)-related congenital muscular dystrophy usually presents with hypotonia and severe axial muscle weakness in early infancy. We report a patient who initially presented with torticollis but was finally diagnosed with <i>LMNA</i>-related congenital muscular dystrophy. A 7-month-old infant presented to the outpatient clinic with a chief complaint of torticollis. During a thorough physical examination, axial muscle weakness and gross motor delay were noted, and she was admitted to the pediatric rehabilitation department for further evaluation. The serum creatine kinase level was elevated, and electromyography demonstrated the possibility of hereditary myopathy or a motor neuron disorder. A gene study was conducted, and it showed a c.745C>T (p.Arg249Trp) mutation in the <i>LMNA</i> gene, which is known to cause congenital muscular dystrophy in rare cases. Since there are few reports describing nerve conduction and electromyography studies in patients with <i>LMNA</i>-related congenital muscular dystrophy, this case is meaningful.
Abstract
Lamin A (<i>LMNA</i>)-related congenital muscular dystrophy usually presents with hypotonia and severe axial muscle weakness in early infancy. We report a patient who initially presented with torticollis but was finally diagnosed with <i>LMNA</i>-related congenital muscular dystrophy. A 7-month-old infant presented to the outpatient clinic with a chief complaint of torticollis. During a thorough physical examination, axial muscle weakness and gross motor delay were noted, and she was admitted to the pediatric rehabilitation department for further evaluation. The serum creatine kinase level was elevated, and electromyography demonstrated the possibility of hereditary myopathy or a motor neuron disorder. A gene study was conducted, and it showed a c.745C>T (p.Arg249Trp) mutation in the <i>LMNA</i> gene, which is known to cause congenital muscular dystrophy in rare cases. Since there are few reports describing nerve conduction and electromyography studies in patients with <i>LMNA</i>-related congenital muscular dystrophy, this case is meaningful.
참고문헌 (10)
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