Nemaline myopathy: A clinical study of 143 cases

Monique M. Ryan, Christina Schnell, Corinne D. Strickland, Lloyd K. Shield, Graeme Morgan, Susan T. Iannaccone, Nigel G. Laing, Alan H. Beggs, Kathryn N. North

Research output: Contribution to journalArticle

175 Scopus citations

Abstract

We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular Centre guidelines, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset nemaline myopathy. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate in 1. Twenty-two patients had skeletal muscle actin mutations and 4 had mutations in the α-tropomyosin SLOW gene. Obstetric complications occurred in 49 cases. Seventy-five patients had significant respiratory disease during the first year of life, and 79 had feeding difficulties. Atypical features in a minority of cases included arthrogryposis, central nervous system involvement, and congenital fractures. Progressive distal weakness developed in a minority of patients. Thirty patients died, the majority during the first 12 months of life. All deaths were due to respiratory insufficiency, which was frequently underrecognized in older patients. Arthrogryposis, neonatal respiratory failure, and failure to achieve early motor milestones were associated with early mortality. Morbidity from respiratory tract infections and feeding difficulties frequently diminished with increasing age. Aggressive early management is warranted in most cases of congenital nemaline myopathy.

Original languageEnglish (US)
Pages (from-to)312-320
Number of pages9
JournalAnnals of Neurology
Volume50
Issue number3
DOIs
StatePublished - Sep 26 2001

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Ryan, M. M., Schnell, C., Strickland, C. D., Shield, L. K., Morgan, G., Iannaccone, S. T., Laing, N. G., Beggs, A. H., & North, K. N. (2001). Nemaline myopathy: A clinical study of 143 cases. Annals of Neurology, 50(3), 312-320. https://doi.org/10.1002/ana.1080