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.
Beskrivning
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.
Inheritance patterns
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
Related patient information and medicines
Patient information leaflet
Ögonproblem
Refractive errors Problems with focusing may mean that you need to wear glasses or cont... There are four main types of refractive error: Short sight (myopia). See the separate leaflet called Myopia. Retinal detachment (RD) The retina is made up of two layers: an inner layer of light-sensitive 'seeing cells' (called rods and cones) and an outer.
Patient information leaflet
Kan jag ta Magnesium och Simvastatin tillsammans?
Stop taking it immediately and contact your doctor if you think you are pregnant. Muscle problems (Myopathy/Rhabdomyolysis) - simvastatin Contact your doctor immediately if you experience unexplained muscle pain, tenderness, or weakness. This risk is significantly increased if you drink large amounts of grapefruit juice or take certain other.
Patient information leaflet
Näthinneavlossning
The retina is a structure at the back of the eye which is essential for sight. When two layers of tissue in the retina become separated, it is known as a retinal tear or detachment. It is a very serious eye condition and can cause severe visual impairment if it is not treat... What is retinal detachment. Retinal detachment (RD) is when the tissue.
Patient information leaflet
Återuppfödningssyndrom
Återuppfödningssyndrom was first described in Far East prisoners after the second world war when they developed hjärtsvikt after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Återuppfödningssyndrom is a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
Kan jag ta Atorvastatin och Mariatistel-extrakt tillsammans?
Taking milk thistle with atorvastatin might increase the levels of the medication in your bloodstream. This could potentially increase the risk of side effects, such as muscle aches, pain, or weakness (a condition called myopathy). Caution is advised when taking atorvastati and milk thistle together. Combining them may increase the amount of.
Patient information leaflet
Kan jag ta Simvastatin och Venlafaxin tillsammans?
Muscle problems (Myopathy/Rhabdomyolysis) Contact your doctor immediately if you experience ... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Apr 2012 | Ursprungligen publicerad
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