Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate


Sahin S., Oncel M. Y. , Bidev D., Okur N., TALİM B. , Oguz S. S.

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.117, sa.4, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 117 Konu: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5546/aap.2019.eng.e382
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA

Özet

Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. There is no curative treatment for nemaline myopathy. Therapeutic strategies for this condition are symptomatic and empirical. Herein, we present a newborn with severe respiratory failure and generalized muscle weakness, who was diagnosed as NM by muscle biopsy. The patient experienced remarkable decrease in sialorrhea and improvement of spontaneous movements after L-tyrosine treatment.