Cap myopathy
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
Beskrivning
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
Affected individuals may have feeding and swallowing difficulties in infancy. They typically have delayed development of motor skills such as sitting, crawling, standing, and walking. They may fall frequently, tire easily, and have difficulty running, climbing stairs, or jumping. In some cases, the muscles used for breathing are affected, and life-threatening breathing difficulties can occur.
People with cap myopathy may have a high arch in the roof of the mouth (high-arched palate), severely drooping eyelids (ptosis), and a long face. Some affected individuals develop an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).
The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Cap disease
Congenital myopathy with caps
Related patient information and medicines
Patient information leaflet
Höftledsepifysiolys
A slipped capital femoral epiphysis occurs when the upper, or capital, epiphysis of the thigh bone (femur) slips sideways off the end of the femur.
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 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
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 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.
Vidare läsning och referenser
- Cap myopathy; MedlinePlus, National Library of Medicine.
- Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.
- De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23.
- Goebel HH. Cap disease uncapped. Neuromuscul Disord. 2007 Jun;17(6):429-32. doi: 10.1016/j.nmd.2007.03.011. Epub 2007 Apr 16. No abstract available.
- Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19.
- Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: 10.1016/j.nmd.2007.02.015. Epub 2007 Apr 16.
- Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Gronholm M, Wallgren-Pettersson C. Abnormal actin binding of aberrant beta-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.
- 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.
- Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacene E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.
- Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Apr 2012 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.