Miyoshi myopathy
Senast uppdaterad 22 aug 2023
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Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
Beskrivning
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock and can also involve the upper arm and shoulder muscles. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.
Rarely, abnormal heart rhythms (arrhythmias) have developed in people with Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Distal muscular dystrophy, Miyoshi type
Miyoshi distal myopathy
Miyoshi muscular dystrophy
MMD
Related patient information and medicines
Patient information leaflet
Återuppfödningssyndrom
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Patient information leaflet
Muskeldystrofi
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Other.
Patient information leaflet
Kan jag ta Simvastatin och Vitamin B12 tillsammans?
Why this happens Simvasta... Muscle problems (Myopathy/Rhabdomyolysis) Contact your doctor immediately if you experience unexplained muscle pain, tenderness, or weakness. Grapefruit contains compounds that increase the level of simvastatin in your blood, which significantly increases your risk of serious side effects, such as muscle damage.
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 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 Magnesium och Simvastatin tillsammans?
Stop taking it immediately and cont... 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 medicines. Grapefruit contains compounds that.
Vidare läsning och referenser
- Miyoshi myopathy; MedlinePlus, National Library of Medicine.
- Amato AA, Brown RH Jr. Dysferlinopathies. Handb Clin Neurol. 2011;101:111-8. doi: 10.1016/B978-0-08-045031-5.00007-4.
- Bouquet F, Cossee M, Behin A, Deburgrave N, Romero N, Leturcq F, Eymard B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13.
- Fanin M, Angelini C. Progress and challenges in diagnosis of dysferlinopathy. Muscle Nerve. 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367.
- Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR 3rd, Milone M. ANO5-muscular dystrophy: clinical, pathological and molecular findings. Eur J Neurol. 2013 Oct;20(10):1383-9. doi: 10.1111/ene.12191. Epub 2013 May 12.
- Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. Eur J Neurol. 2013 Jun;20(6):968-74. doi: 10.1111/ene.12129. Epub 2013 Mar 26.
- Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Beroud C, Urtizberea A, Eymard B, Leturcq F, Levy N. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355.
- Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21.
- Penttila S, Palmio J, Suominen T, Raheem O, Evila A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7.
- Ten Dam L, van der Kooi AJ, Rovekamp F, Linssen WH, de Visser M. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004. Epub 2014 Aug 1.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
22 aug 2023 | Senaste versionen
1 Apr 2014 | Ursprungligen publicerad
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