nemaline myopathy

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any disease of a muscle. adj., adj myopath´ic.
centronuclear myopathy myotubular myopathy.
distal myopathy an autosomal dominant form of muscular dystrophy, appearing in two types. The first has onset in infancy, does not progress past adolescence, and is not incapacitating. The second has onset in adulthood and is called late distal hereditary myopathy. Called also distal muscular dystrophy.
glycolytic myopathy any metabolic myopathy resulting from a defect of glycolytic enzyme activity, marked by exercise intolerance and cramping, the accumulation of glycogen in muscle, and recurrent myoglobinuria.
late distal hereditary myopathy distal myopathy that sets in usually after age 40, does not affect life span and first affects the small muscles of the hands and feet and then spreads proximally.
metabolic myopathy myopathy due to disordered metabolism, usually caused by genetic defects or hormonal dysfunction.
mitochondrial myopathy any of a group of myopathies associated with an increased number of enlarged, often abnormal, mitochondria in muscle fibers, manifested by exercise intolerance, generalized weakness, lactic acidosis, infantile tetraparesis, ophthalmoplegia, and cardiac abnormalities.
myotubular myopathy a form marked by myofibers resembling the myotubules of early fetal muscle.
nemaline myopathy a congenital abnormality of myofibrils in which small threadlike fibers are scattered through the muscle fibers; marked by hypotonia and proximal muscle weakness.
ocular myopathy a slowly progressive form affecting the extraocular muscles, with ptosis and progressive immobility of the eyes.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

nem·a·line my·op·a·thy

congenital, nonprogressive muscle weakness most evident in the proximal muscles; named after the characteristic nemaline (threadlike) rods seen in the muscle cells composed of Z-band material. There are two forms, dominant [MIM*161800] caused by mutation in the tropomyosin-3 gene (TPM3) on 1q22-q23, and recessive [MIM*256030], that are clinically indistinguishable.
Synonym(s): rod myopathy
Farlex Partner Medical Dictionary © Farlex 2012

nemaline myopathy

(nĕm′ə-līn′, -lĭn)
A usually nonprogressive congenital disorder characterized by muscle weakness especially in the face, neck, and trunk, and distinctive threadlike rods seen in muscle cells.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

nemaline myopathy

nemaline, Greek, rod-shaped A benign AD muscular dystrophy affecting 'floppy infants', characterized by non-progressive muscular weakness, ↓ deep tendon reflexes and hypotonicity, causing skeletal abnormalities, a typical facies–oval face, micrognathia, malocclusion, and a high arched palate, kyphoscoliosis, dislocation of hips and pes cavus; NM is compatible with a normal life span; 'nemaline' refers to the ultrastructural finding of rod-like Z-band material in both type I and type II myocytes. Cf Central core myopathy, Floppy infant syndrome.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.
The pathogenesis of nemaline myopathy is not well understood.
In addition, Laing et al[7] described the disease gene, TMP3, in autosomal-dominant nemaline myopathy. The TMP3 mutation is due to a missense mutation from methionine to arginine at the N terminus.
[1.] North KN, Laing NG, Wallgren-Pettersson C, and the ENMC International Consortium on Nemaline Myopathy. Nemaline myopathy: current concepts.
Nemaline myopathy in the neonate: two case reports.
Respiratory failure in nemaline myopathy. Pediatr Neurol.
People with nemaline myopathy have moderate weakness in their leg, arm and trunk muscles, accompanied by some mild weakness of the face, tongue and throat muscles.
The severest form of nemaline myopathy usually appears at birth.
Central core disease, some forms of myotonia congenita, myotubular myopathy (possibly), some forms of nemaline myopathy, paramyotonia congenita and periodic paralysis follow the autosomal dominant pattern.
Studying a small piece of muscle taken from an individual during a muscle biopsy is a useful part of the diagnosis for a number of myopathies, especially central core disease, nemaline myopathy and myotubular myopathy.