Key result
A two-and-a-half-month-old boy with hypotonia and respiratory distress was diagnosed with nemaline myopathy associated with heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene.
Case Report (n=1)
Nemaline myopathy should be considered in the differential diagnosis of patients presenting with respiratory failure and muscle weakness.
Case report of ACTA1-related nemaline myopathy in infancy; leaves open broader diagnostic and prognostic implications pending larger series.
Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in the neonatal or infancy period. Mild forms of the disease present with walking-swallowing difficulties and respiratory distress in late childhood or adulthood. A two-and-a-half-month-old boy was monitored in our Pediatric Intensive Care Unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of a muscle biopsy. An advanced molecular examination revealed heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene, which is the second most common cause of this disease. Nemaline myopathy should be kept in mind in patients of all age groups with respiratory failure and walking difficulty secondary to muscle weakness.
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Yeşilbaş et al. (2018) conducted a case report in Nemaline myopathy (n=1). ACTA1 gene mutation was evaluated. A two-and-a-half-month-old boy with hypotonia and respiratory distress was diagnosed with nemaline myopathy associated with heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene.
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