Actin-accumulation myopathy
अंतिम अद्यतन 18 Aug 2020
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Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation 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.
विवरण
Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation 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 actin-accumulation 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 actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
Actin filament aggregate myopathy
Actin myopathy
Congenital myopathy with excess of thin filaments
Nemaline myopathy 3
Related patient information and medicines
Patient information leaflet
रीफीडिंग सिंड्रोम
रीफीडिंग सिंड्रोम was first described in Far East prisoners after the second world war when they developed हृदय विफलता after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. रीफीडिंग सिंड्रोम is a dangerous and life threatening shift का fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
विल्सन की बीमारी
विल्सन की बीमारी is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
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प्रतिरक्षा प्रणाली
This leaflet gives a brief overview of the प्रतिरक्षा प्रणाली and how it works. A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes.
Patient information leaflet
क्या मैं एम्लोडिपिन और एटोरवास्टेटिन को एक साथ ले सकता हूँ?
Taking amlodipine and atorvastatin together can increase the amount of atorvastatin in your blood. This may increase the risk of side effects, particularly muscle pain, tenderness, or weakness (a condition called myopathy). In rare cases, this can lead to a more serious muscle breakdown called rhabdomyolysis. Amlodipine and atorvastatin can.
Patient information leaflet
मांसपेशियों का अपविकास
New treatments are likely to be av... If you have MD, speak to your specialist team to find out more about current treatments and trials. What else could it be. There are other medical conditions which cause muscle weakness. These are: Conditions called myopathies - in which there is muscle weakness. Some myopathies are temporary problems and are.
Patient information leaflet
क्या मैं एटोरवास्टेटिन और पायरिडोस्टिग्माइन को एक साथ ले सकता हूँ?
There is a potential for increased muscle-related side effects when taking these two medicines together. Both drugs can independently affect muscle function; atorvastatin can cause muscle aches or weakness (myopathy), and pyridostigmine is used to treat muscle weakness in conditions like myasthenia gravis. Taking them together might make it harder.
अधिक पठन और संदर्भ
- Actin-accumulation myopathy; MedlinePlus, National Library of Medicine.
- Bornemann A, Petersen MB, Schmalbruch H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996 Jul;92(1):104-8. doi: 10.1007/s004010050496.
- 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.
- Goebel HH, Anderson JR, Hubner C, Oexle K, Warlo I. Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord. 1997 May;7(3):160-8. doi: 10.1016/s0960-8966(97)00441-0.
- 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.
- Nowak KJ, Ravenscroft G, Laing NG. Skeletal muscle alpha-actin diseases (actinopathies): pathology and mechanisms. Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24.
- Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Muller CR, Nurnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837.
- Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24.
- Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub 2004 Jun 24.
- Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9.
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