{Reference Type}: Case Reports
{Title}: L-tyrosine for treatment of an infant with nemaline rod myopathy.
{Author}: Dalal N;Naranje K;Moriangthem A;Singh A;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 6
{Year}: 2024 Jun 12
暂无{DOI}: 10.1136/bcr-2023-259303
{Abstract}: Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis. The histopathological examination shows the presence of rod-like structures or nemaline bodies in muscles. Management remains mainly supportive, and currently, there is no available curative treatment. This case report describes an infant presenting with gross hypotonia, poor handling of secretions and multiple extubation failures who was diagnosed by clinical exome sequencing. The patient harboured compound heterozygous variants in the NEB gene suggestive of nemaline rod myopathy. The newborn showed significant improvement in muscle strength after he was started on dietary L-tyrosine supplementation. This case highlights the emerging role of L-tyrosine in the supportive care of infants with nemaline rod myopathy.