Centronuclear myopathy
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Centronuclear myopathy is a condition characterised by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
Beskrivning
Centronuclear myopathy is a condition characterised by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.
Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.
A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
CNM
Myopathy, centronuclear
Related patient information and medicines
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
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
Muskeldystrofi
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
Kan jag ta Atorvastatin och Pyridostigmin tillsammans?
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), och pyridostigmine is used to treat muscle weakness in conditions like myasthenia gravis. Taking them together might make it harder.
Patient information leaflet
Kan jag ta Amlodipin och Atorvastatin tillsammans?
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
Kan jag ta Atorvastatin och Prednisolon tillsammans?
Tar atorvastatin and prednisolone together may increase the risk of muscle-related side effects, såsom muscle pain, tenderness, or weakness. Taking them together m... Why this happens Both medications can independently cause muscle toxicity (myopathy). When used together, these effects can add up (an additive effect). Furthermore,.
Vidare läsning och referenser
- Centronuclear myopathy; MedlinePlus, National Library of Medicine.
- Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.
- Bohm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforet P, Maisonobe T, Olive M, Gonzalez-Mera L, Fardeau M, Carriere N, Clavelou P, Eymard B, Bitoun M, Rendu J, Faure J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25.
- Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.
- Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014.
- Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
- Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.
- Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5.
- Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23.
- Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, Garcia-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.
- Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Muller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 Aug 2023 | Senaste versionen
1 Nov 2015 | Ursprungligen publicerad
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