National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Nemaline myopathy



Is nemaline myopathy a neurological disorder, neuromuscular disorder, or something else? Is there a difference between nemaline myopathy and nemaline rod myopathy?


Is nemaline myopathy a neurological disorder, neuromuscular disorder, or something else?

Nemaline myopathy is a neuromuscular condition; more specifically an inherited congenital myopathy.[1][2][3]
Last updated: 3/10/2014

Is there a difference between nemaline myopathy and nemaline rod myopathy?

No, these two terms are used to refer to the same condition. They are synonyms.[1][4][5]
Last updated: 3/10/2014

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  1. North K, Ryan MM. Nemaline Myopathy. GeneReviews. March 15, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1288/. Accessed 3/10/2014.
  2. Lopate G. Congenital Myopathies. Medscape Reference. June 13, 2012; http://emedicine.medscape.com/article/1175852-overview. Accessed 3/10/2014.
  3. NINDS Myopathy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 7, 2014; http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm. Accessed 3/10/2014.
  4. Ryan M. Nemaline myopathy. Orphanet. October 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=607. Accessed 3/10/2014.
  5. Nemaline myopathy. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/nemaline-myopathy. Accessed 3/10/2014.