NORD gratefully acknowledges William Christy, NORD Editorial Intern from the University of Notre Dame, for assistance in the preparation of this report.
Nemaline myopathy is a rare genetic muscle disorder. Six different clinical subtypes of nemaline myopathy have been identified based on disease severity and age of onset, ranging from a severe congenital-onset (at birth) form that is usually lethal in the first few months of life, through to less severe forms with onset in childhood or adulthood. Most affected individuals have a milder form of the disorder known as typical congenital nemaline myopathy and are able to walk and lead active lives. The inheritance pattern is variable depending on the underlying genetic cause. Characteristic symptoms of all forms of nemaline myopathy include muscle weakness, diminished muscle tone (hypotonia), and reduced or absent reflexes. In most people, muscle weakness is static (nonprogressive) over time. Weakness of the muscles of breathing and swallowing are the major cause of morbidity and mortality.Introduction
Nemaline myopathy is defined by muscle weakness and the presence of fine, thread-like or rod-like structures called "nemaline bodies", when muscle biopsies are viewed under the microscope. The prefix "nema-" is derived from Greek and means "thread-like." Nemaline bodies consist of accumulations of muscle proteins due to mutations in genes which encode proteins components of the muscle thin filament.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100