CAV3-related distal myopathy
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CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterised by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.
Beskrivning
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterised by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.
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, Tateyama type
MPDT
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 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 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
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 Bisoprolol och Simvastatin tillsammans?
While rare, taking them together might slightly... Why this happens Bisoprolol is a beta-blocker used for heart rate and blood pressure, while simvastatin is a statin used for cholesterol. They are processed by different pathways in the liver and do not interfere with how the other is absorbed or removed from the body. Grapefruit contains a.
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), and pyridostigmine is used to treat muscle weakness in conditions like myasthenia gravis. Taking them together might make it harder.
Vidare läsning och referenser
- CAV3-related distal myopathy; MedlinePlus, National Library of Medicine.
- Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.
- Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol. 2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4.
- Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8.
- Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. doi: 10.1212/wnl.58.2.323.
- Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. doi: 10.1212/wnl.62.4.538.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 May 2014 | Ursprungligen publicerad
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