Intranuclear rod myopathy
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Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.
Descrição
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.
The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking.
The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in the nucleus of muscle cells when muscle tissue is viewed under a microscope.
Padrões de herança
The source lists the following possible inheritance patterns: Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Intranuclear nemaline rod myopathy
Nemaline myopathy with exclusively intranuclear rods
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Leitura adicional e referências
- Intranuclear rod myopathy; MedlinePlus, National Library of Medicine.
- Domazetovska A, Ilkovski B, Cooper ST, Ghoddusi M, Hardeman EC, Minamide LS, Gunning PW, Bamburg JR, North KN. Mechanisms underlying intranuclear rod formation. Brain. 2007 Dec;130(Pt 12):3275-84. doi: 10.1093/brain/awm247. Epub 2007 Oct 10.
- Feng JJ, Marston S. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. doi: 10.1016/j.nmd.2008.09.005. Epub 2008 Oct 30.
- Kaimaktchiev V, Goebel H, Laing N, Narus M, Weeks D, Nixon R. Intranuclear nemaline rod myopathy. Muscle Nerve. 2006 Sep;34(3):369-72. doi: 10.1002/mus.20521.
- Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059.
- Ogasawara M, Nishino I. A review of major causative genes in congenital myopathies. J Hum Genet. 2023 Mar;68(3):215-225. doi: 10.1038/s10038-022-01045-w. Epub 2022 Jun 7.
- Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6.
- Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bonnemann CG, Ceyhan-Birsoy O. Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. J Neuromuscul Dis. 2025 Nov;12(6):778-792. doi: 10.1177/22143602251339369. Epub 2025 Jun 10.
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