Distal myopathy 2
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Distal myopathy 2 is a condition characterised by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
Beskrivning
Distal myopathy 2 is a condition characterised by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult.
Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Distal myopathy with vocal cord and pharyngeal signs
Distal myopathy with vocal cord weakness
Matrin 3 distal myopathy
MPD2
Myopathia distalis type 2
VCPDM
Vocal cord and pharyngeal weakness with distal myopathy
Related patient information and medicines
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 Levotyroxin och Simvastatin tillsammans?
Muscle disorders (Myopathy/Rhabdomyolysis) - simvastatin You must report any unexplained muscle pain, tenderness, or weakness to your doctor immediately. This is especially important if you also feel unwell or have a fever, as i... Ansvarsfriskrivning This information is for general educational purposes only and should not be relied upon as a substitute.
Patient information leaflet
Kan jag ta Amlodipin och Simvastatin tillsammans?
Taking these two medicines together can increase the amount of simvastatin in your blood. This makes you more likely to experience side effects, particularly muscle pain, tenderness, or weakness (a condition called myopathy). In rare cases, this can lead to a serious condition called rhabdomyolysis, which can cause kidney damage. Why this happens.
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 Vitamin B12 tillsammans?
Varför detta händer Simvastatin is a cholesterol-lowering medication (statin) processed primarily by the liver, while vitamin B12 is a water-soluble vitamin absorbed in the gut and used for nerve and blood health. Muscle problems (Myopathy/Rhabdomyolysis) Contact your doctor immediately if you experience unexplained muscle pain, tenderness, or.
Patient information leaflet
Buerger's sjukdom
However, what is known is that the disease occurs mainly in smokers. Smoking acts as some kind of a trigger and causes Buerger's disease to start. Continued smoking also causes the condition to become worse (progress). Occasionally, chewing tobacco has been shown to cause the disease. Rarely, no link to tobacco use can been found. It is thought.
Vidare läsning och referenser
- Distal myopathy 2; MedlinePlus, National Library of Medicine.
- Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Reyes C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am J Hum Genet. 1998 Dec;63(6):1732-42. doi: 10.1086/302166.
- Przygodzka P, Boncela J, Cierniewski CS. Matrin 3 as a key regulator of endothelial cell survival. Exp Cell Res. 2011 Apr 1;317(6):802-11. doi: 10.1016/j.yexcr.2010.12.009. Epub 2010 Dec 21.
- Salton M, Elkon R, Borodina T, Davydov A, Yaspo ML, Halperin E, Shiloh Y. Matrin 3 binds and stabilizes mRNA. PLoS One. 2011;6(8):e23882. doi: 10.1371/journal.pone.0023882. Epub 2011 Aug 17.
- Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schoneborn S, Zerres K, Lochmuller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2.
- Zhang Z, Carmichael GG. The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs. Cell. 2001 Aug 24;106(4):465-75. doi: 10.1016/s0092-8674(01)00466-4.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Nov 2011 | Ursprungligen publicerad
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