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"dystrophy, myotonic"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
¿µ¹® muscular dystrophy ÇÑ±Û ±ÙÀ°ÅðÇàÀ§Ãà
¼³¸í   
  ±Ù¼¶À¯ÀÇ ÆÄ±«·Î ÀÎÇÑ Á¡ÁøÀûÀΠ±ÙÀ§Ãà°ú Çã¾àÀ» Æ¯Â¡À¸·Î Çϴ ÀÏ·ÃÀÇ ¼±ÃµÀûÀΠÁúȯ±ºÀ» ÅëÅо»ÇÑ´Ù. ´ëÇ¥ÀûÀΠ°æ¿ì°¡ µÚ½¨(Duchenne)ÇüÀ¸·Î ¼º¿°»öü ¿­¼ºÀ¯ÀüÀ» Çϸç, ´ë°³ 4 ¼¼À̳»¿¡ ¹ßº´Çؠû³â±â¸¦ ³Ñ±â´Â °æ¿ì°¡ µå¹°´Ù. Æ¯Â¡Àû ¼Ò°ßÀ¸·Î ÀåµýÁö±Ù(gastronemius)ÀÇ °ÅÁþºñ´ë(pseudohypertrophy)(½ÇÁ¦ÀûÀ¸·Î´Â ±ÙÀ§ÃàÀÌ ÀϾÁö¸¸, ±Ù¼¶À¯ ´ë½Å¿¡ Áö¹æ¼¼Æ÷°¡ µé¾îÂ÷ µµ¸®¾î ¸¶Ä¡ ±ÙÀ°ÀÌ Áõ°¡ÇÑ °Íó·³ º¸À̴ Çö»ó) ¼Ò°ßÀ» º¼ ¼ö ÀÖ´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • myotonic dystrophy
    ±Ù(À°)±äÀåµð½ºÆ®·ÎÇÇ
  • myotonic
    ±Ù(À°)±äÀå-
  • myotonic potential
    ±Ù(À°)±äÀåÀüÀ§
  • myotonic pupil
    ±Ù(À°)±äÀ嵿°ø
  • myotonic reaction
    ±Ù(À°)±äÀå¹ÝÀÀ
  • myotonic reflex
    ±Ù(À°)±äÀå¹Ý»ç
  • adiposogenital dystrophy
    Áö¹æÁõ»ý½Ä±âÅðÇàÀ§Ãà
  • Becker muscular dystrophy
    º£Ä¿±Ù(À°)µð½ºÆ®·ÎÇÇ
  • dystrophy
    ÀÌ»óÁõ, µð½ºÆ®·ÎÇÇ, ¿µ¾çÀå¾Ö
  • facioscapulohumeral muscular dystrophy
    ¾ó±¼¾î±úÀ§ÆÈ±ÙÀ°µð½ºÆ®·ÎÇÇ
  • Fuchs endothelial dystrophy
    Ç«½º³»ÇǼ¼Æ÷ÀÌ»óÁõ
  • granular corneal dystrophy
    °ú¸³°¢¸·ÀÌ»óÁõ
  • infantile neuroaxonal dystrophy
    ¿µ¾Æ½Å°æÃà»èµð½ºÆ®·ÎÇÇ
  • lattice corneal dystrophy
    °ÝÀÚ°¢¸·ÀÌ»óÁõ
  • limb-girdle muscular dystrophy
    ÆÈ´Ù¸®ÀÌÀ½±Ù(À°)µð½ºÆ®·ÎÇÇ, Áö´ë±Ùµð½ºÆ®·ÎÇÇ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • myotonic
    ±ÙÀ°±äÀå-
  • dystrophy
    ÅðÇàÀ§Ãà, ¿µ¾çÀå¾Ö, ÀÌ»óÁõ, µð½ºÆ®·ÎÇÇ
  • muscular dystrophy
    ±ÙÀ°ÅðÇàÀ§Ãà
  • reflex sympathetic dystrophy
    ¹Ý»ç±³°¨½Å°æÀÌ»óÁõ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • myotonic dystrophy
    ±ÙÀ°±äÀåÅðÇàÀ§Ãà
  • myotonic muscular dystrophy
    (¢¡myotonic dystrophy) ±ÙÀ°±äÀåÅðÇàÀ§Ãà
  • myotonic
    ±ÙÀ°±äÀå-
  • myotonic potential
    ±ÙÀ°±äÀåÀüÀ§
  • myotonic pupil
    ±ÙÀ°±äÀ嵿°ø
  • myotonic reaction
    ±ÙÀ°±äÀå¹ÝÀÀ
  • myotonic reflex
    ±ÙÀ°±äÀå¹Ý»ç
  • myotonic syndrome
    ±ÙÀ°±äÀåÁõÈıº
  • adiposogenital dystrophy
    Áö¹æÁõ¼º±âÅðÇàÀ§Ãà
  • dystrophy
    ÅðÇàÀ§Ãà, ¿µ¾çÀå¾Ö, ÀÌ»óÁõ
  • dermo-chondro-corneal dystrophy
    ÇǺο¬°ñ°¢¸·ÀÌ»óÁõ
  • facioscapulohumeral muscular dystrophy
    ¾ó±¼¾î±úÀ§ÆÈ±ÙÀ°ÅðÇàÀ§Ãà
  • granular corneal dystrophy
    °ú¸³°¢¸·ÀÌ»óÁõ
  • infantile neuroaxonal dystrophy
    ¿µ¾Æ½Å°æÃà»èÅðÇàÀ§Ãà
  • lattice corneal dystrophy
    °ÝÀÚ°¢¸·ÀÌ»óÁõ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Fuchs dystrophy
    Ç«½ºÀÌ¿µ¾çÁõ
  • Groenouws dystrophy
    ±×·Ú³ëÀÌ¿µ¾ç(Áõ)
  • Meesman dystrophy
    ¹Ì½º¸¸ÀÌ¿µ¾ç(Áõ)
  • Meesmans corneal dystrophy
    ¹Ì½º¸¸°¢¸·ÀÌ¿µ¾ç(Áõ)
  • Salzmanns nodular corneal dystrophy
    ÀßÂ길°áÀý°¢¸·ÀÌ¿µ¾ç(Áõ)
  • albipunctate retinal dystrophy
    ÈòÁ¡¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • hereditary corneal dystrophy
    À¯Àü¼º°¢¸·ÀÌ¿µ¾çÁõ.
  • hereditary corneal dystrophy
    À¯Àü¼º °¢¸·ÀÌ ¿µ¾çÁõ.
  • hereditary macular dystrophy
    À¯Àü¼ºÈ²¹ÝÀÌ¿µ¾ç(Áõ)
  • infantile neuroaxonal dystrophy
    ¿µ¾Æ½Å°æÃà»è¼º ÀÌ¿µ¾çÁõ, »çÀÌÅйö°Å¾¾º´.
  • peroneal muscular dystrophy
    ºñ°ñ±ÙÀ§ÃàÁõ(Þ¡ÍéÐÆê×õêñø)
  • pigmentary retinal dystrophy
    »ö¼Ò¸Á¸·ÀÌ¿µ¾çÁõ, ¸Á¸·»ö¼Òº¯¼º
  • progressive muscle dystrophy
    ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ(òäú¼àõÐÉì¶ç½å×ñø).
  • progressive muscle dystrophy
    ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ(òäú¼àõ ì¶ç½å×ñø)
  • pseudohypertrophy,in muscular dystrophy
    ±ÙÀÌ¿µ¾ç(Áõ)ÀÇ ¡­(ÐÉì¶ç½å×(ñø)¡­)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • myotonic dystrophy
    ±Ù±äÀ强 ÀÌ¿µ¾çÁõ(ÐÉÑÌ íåàõì¶ç½å×ñø).
  • myotonic dystrophy
    ±Ù±äÀ强 ÀÌ¿µ¾çÁõ(¡­ì¶ç½å×ñø)
  • myotonic dystrophy
    ±Ù±äÀå(¼º) ÀÌ¿µ¾çÁõ
  • myotonic
    ±Ù±äÀ强(ÐÉÑÌíåàõ)ÀÇ.
  • myotonic muscular dystrphy
  • myotonic reaction
    ±Ù±äÀ强 ¹ÝÀÀ(¡­Úãëë).
  • myotonic reflex
    ±Ù±äÀ强 ¹Ý»ç(¡­ÚãÞÒ).
  • myotonic syndrome
    ±Ù±äÀ强 ÁõÈıº(¡­ñøý¦ÏØ).
  • adrenogenital dystrophy
    ºÎ½Å¼º±â¹ßÀ°ÀÌ»ó(ÜùãìàõÐïÛ¡ëÀì¶ßÈ), ºÎ½Å¼º±âÀÌ¿µ¾çÁõ(¡­ì¶ç½å×ñø).
  • albipunctate retinal dystrophy
    ÈòÁ¡¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • basement membrane dystrophy
    ±âÀú¸·ÀÌ¿µ¾ç(Áõ)
  • beckers muscular dystrophy
    º£Ä¿ ±ÙÀÌ¿µ¾çÁõ(¡­ÐÉì£ç½å×ñø)
  • butterfly corneal dystrophy
    ³ªºñ¸ð¾ç°¢¸·ÀÌ¿µ¾ç(Áõ), Á¢Çü°¢¸·ÀÌ¿µ¾ç(Áõ)
  • butterfly-shaped retinal dystrophy
    ³ªºñ¸ð¾ç¸Á¸·ÀÌ¿µ¾ç(Áõ), Á¢Çü¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • central areolar choroidal dystrophy
    Á߽ɼº¿øÇü¸Æ¶ô¸·ÀÌ¿µ¾ç(Áõ)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • adrenogenital dystrophy
    ºÎ½Å¼º±â¹ßÀ°ÀÌ»ó
  • dystrophy
    ÀÌ¿µ¾çÁõ, ¿µ¾ç½ÇÁ¶, ±â´ÉÀå¾Ö, À§ÃàÁõ
  • muscular dystrophy
    ±ÙÀÌ¿µ¾çÁõ
  • progressive muscle dystrophy
    ÁøÇ༺±ÙÀÌ¿µ¾çÁõ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
MDPK myotonic dystrophy protein kinase
MMD mass median diameter; minimum morbidostatic dose; moyamoya disease; myotonic muscular dystrophy
MyD myotonic dystrophy
MyMD myotonic muscular dystrophy
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
CMD Congenital myotonic dystrophy
MD Myotonic Dystrophy
MyD Myotonic Dystrophy
MMD Myotonic muscular dystrophy
MyD Myotonic muscular dystrophy
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • myotonic dystrophy
    ±Ù ±äÀ强 ÀÌ¿µ¾çÁõ
    ±Ù ±äÀåÁõ°ú ±Ù µð½ºÆ®·ÎÇÇ¿ÍÀÇ ¼º°ÝÀ» Áß½ÉÀ¸·Î ÇÑ ´Ù°èÅ뼺 À¯Àü¼º ÁúȯÀÌ°í ±Ù ±äÀ强 ÁõÈıº¿¡ ¼ÓÇÏ´Â Áúȯ °¡¿îµ¥ °¡Àå ºóµµ°¡ ³ô´Ù. ±Ù ±äÀåÁõÀº ÀÏÁ¾ÀÇ ´ë»ç¼º ¹Ì¿ÀÆÄƼ·Î¼­ÀÇ º´ÅÂÀÌ°í ¼ÕÀ» Áå µÚ Æì±â ¾î·Æ°í ÇØ¸Ó µîÀ¸·Î µÎµé±ä µÚ ±Ù ¼öÃàÀÌ ºÎÇ®¾î¿À¸¥ ÇüÅ·ΠÁö¼ÓÇÏ´Â °Í µîÀÌ Æ¯Â¡ÀÌ´Ù. º¸Åë »ó¿°»öü¼º ¿ì¼º À¯ÀüÀ̰í ÇÑ ´ë°¡ ³»·Á°¥ ¶§¸¶´Ù ¹ß»ý ¿¬·É ÀúÇϳª ÁßÁõÈ­¸¦ ¼ö¹ÝÇÏ´Â ÁøÇ༺ À¯ÀüÀ» ³ªÅ¸³»´Â °æ¿ì°¡ ¸¹´Ù. Ä¡·á´Â ±Ù ±äÀå¿¡ ´ëÇØ¼­´Â ÇÑ·©À» ÇÇÇÏ°í ¿îµ¿ ½Ã¿¡ ¿ö¹Ö¾÷À» ÇÏ´Â ½À°üÀ» ÀÍÈ÷°Ô ÇÏ´Â °ÍÀε¥ ¾à¹° ¿ä¹ýÀ¸·Î¼­ ÇÁ·ÎÄ«ÀξƸ¶À̵å, µðÆä´ÒÈ÷´ÜÅäÀÎ µîÀÇ Ç×°æ·ÃÁ¦µµ ½ÃµµµÈ´Ù. ±Ù·Â ÀúÇÏ¿Í ±Ù À§Ãà¿¡ ´ëÇØ¼­´Â ÀçȰ ÇÁ·Î±×·¥ÀÇ ½Ç½Ã, ´ç´¢º´, ¹é³»Àå µî¿¡ ´ëÇØ¼­´Â °³°³ÀÇ ÀϹÝÀû Ä¡·á¸¦ ÇàÇÑ´Ù.
  • myotonic syndrome
    ±Ù ±äÀ强 ÁõÈıº, ±Ù °­Á÷ ÁõÈıº
    ±ÙÀÌ ÀÚµ¿ ¼öÃàÀ̳ª ±â°èÀû Àڱؿ¡ À־ ÀÌ»óÇÏ°Ô ±äÀåÇÏ°í ¼öÃàÀ» °è¼ÓÇØ ±æÇ×ÇÏ´Â µ¿ÀÛÀÌ °ï¶õÇÑ »óÅÂ. À̸¦Å×¸é ¼Õ°¡¶ôÀ» ±¸ºÎ¸®°Ô ÇÒ ¶§ ±¸ºÎ·¯Áø ä Æì·Á°í ÇØµµ Á»Ã³·³ ÆìÁöÁö ¾Ê´Â´Ù. ±ÙÀüµµ¿¡¼­ ƯÀÌÇÑ ¼Ò°ßÀÌ ÀÖ°í ¼Ò¸®¸¦ µéÀ¸¸é Æø°ÝÀ½°ú °°Àº µ¶Æ¯ÇÑ ¼Ò¸®°¡ ³­´Ù. ±Ù °­Á÷Áõ¿¡´Â ¼±Ãµ¼º ±Ù °­Á÷Áõ
  • adiposogenital dystrophy
    Áö¹æ »ý½Ä±â ÀÌ¿µ¾çÁõ
    ºóÀÇ ½Å°æÇÐÀÚ Alfred Frohlich¿¡ ÀÇÇØ ÃÖÃÊ·Î ±âÀçµÈ °ÍÀ¸·Î ÇÁ·Ü¸®Èå ºñ¸¸Áõ ¶Ç´Â ½Ã»ó ÇϺμº ºñ¸¸ÁõÀ¸·Îµµ ºÒ¸°´Ù. ½Ã»ó ÇϺΠÁÖº¯ÀÇ Á¾¾ç Áõ»ó, °©Àڱ⠾ÇÈ­ÇÏ´Â ºñ¸¸, ¼º±â ¹ßÀ° ºÎÀüÀÌ 3ÁÖ Áõ»óÀ̰í Ç㸮, ÇϺ¹ºÎ, µÐºÎ µî¿¡ Áö¹æÀÌ Ä§ÂøÇÑ´Ù. »çÃá±â¿¡´Â 2Â÷ ¼ºÂ¡ÀÌ ¿ÀÁö ¾Ê°í ³²¼ºÀÇ °æ¿ì, ¿©¼º°ú °°Àº üÇüÀÌ µÈ´Ù. °ú·Î ½Ã¿¡´Â ½É½ÅÀÇ ÇǷΰ¡ µÎµå·¯Áø´Ù. JonsonÀº ƯÈ÷ ½Ã»ó ÇϺÎÀÇ Á¾¾ç, ±× ¹ÛÀÇ ¿øÀÎÀ¸·Î ÀÎÇÑ ±âÁú Àå¾Ö°¡ ÀÖ´Â »çÃá±â¹ßÁõÀÇ °ÍÀ» ÇÁ·Ü¸®Èå ÁõÈıºÀ̶ó Çϰí À̰ÍÀÌ ¾Æ´Ò ¶§¸¦ Áö¹æ¼º±â¼º ÀÌ¿µ¾çÁõÀ̶ó°í ¸»Çϰí ÀÖ´Ù.
  • adrenogenital dystrophy
    ºÎ½Å ¼º±â ¹ßÀ° ÀÌ»ó, ºÎ½Å ¼º±â ÀÌ¿µ¾çÁõ
  • central areolar choroidal dystrophy
    Á߽ɼº ¿øÇü ¸Æ¶ô¸· ÀÌ¿µ¾ç
  • central cloudy corneal dystrophy
    Á߽ɼº ȥŹ °¢¸· ÀÌ¿µ¾ç
  • distal muscular dystrophy
    ¿øÀ§ ±ÙÀÌ¿µ¾çÁõ
  • dominant cystoid macular dystrophy
    ¿ì¼º ³¶Æ÷ Ȳ¹Ý ÀÌ¿µ¾çÁõ
  • Duchenne pseudohypertrophic muscular dystrophy
    Duchenne À§ºñ´ë¼º ±ÙÀÌ¿µ¾çÁõ
  • dystrophy
    ¹ßÀ° ÀÌ»ó, ÀÌ¿µ¾çÁõ, ¿µ¾ç Àå¾Ö, ÀÌ¿µ¾ç, ¿µ¾ç½ÇÁ¶, ±â´ÉÀå¾Ö, À§ÃàÁõ
    ºÒ¿ÏÀüÇÑ ¿µ¾ç »óÅ·κÎÅÍ À¯¹ßµÇ´Â ±ÙÀ°ÀÇ ¹ßÀ°¼º º¯È­·Î¼­ ÁßÃ߽Űæ°è´Â Æ÷ÇÔÇÏÁö ¾ÊÀ¸¸ç, Áö¹æ º¯¼º, Å©±â´Â Áõ°¡ÇÏÁö¸¸ ÈûÀº °¨¼ÒÇÏ´Â »óŰ¡ Ư¡ÀÌ´Ù. ¿µ¾ç ºÎÁ· ¶Ç´Â ¿µ¾ç °áÇÌ¿¡ À¯·¡ÇÏ´Â ÀÏ¹Ý ÁúȯÀÇ. ƯÈ÷ ±Ù ÀÌ¿µ¾çÀ» ¶æÇÑ´Ù.
  • facioscapulohumeral muscular dystrophy
    ¾È¸é °ß°© »ó¿Ï±Ù ÀÌ¿µ¾çÁõ
  • fascioscapulohumeral dystrophy
    ¾È¸é °ß°© »ó¿Ï ±ÙÀÌ¿µ¾çÁõ
    »ó¿°»öü ¿ì¼ºÀ¸·Î À¯ÀüµÇ°í ±Ù ¼è¾àÀÌ ¾È¸é°ú °ß°©ºÎ ±ÙÀ°¿¡ ÁÖ·Î ³ªÅ¸³ª³ª Èı⿡´Â ´Ù¸® ±ÙÀ°¿¡µµ ³ªÅ¸³¯ ¼ö ÀÖ´Ù. °ß°©ºÎ ±ÙÀ°ÀÌ ÁַΠħ¹üµÇ±â ¶§¹®¿¡ »ó¿Ï À̵αÙÀ̳ª »ï°¢±Ù¿¡¼­ ±Ù »ý°ËÀ» ÇØ¾ßÇÑ´Ù. º´¸®ÇÐÀû ¼Ò°ßÀº ¹Ì¹ÌÇÏ¿© ¸¹Àº ¼öÀÇ È¯ÀÚ¿¡¼­ ±Ù »ý°Ë»ó ¼Ò¼öÀÇ ¿øÇü ±Ù¼¶À¯¸¸ ³ªÅ¸³ª¼­ °ÅÀÇ Á¤»ó ±ÙÀ°°ú °°ÀÌ º¸ÀÏ ¼ö ÀÖ´Ù. ÀϺΠ±Ù¼¶À¯°¡ Á»¸ÔÀº ±Ù¼¶À¯³ª À±»ýºÐÁö ¼¶À¯¸¦ º¸À̰í NADH °°Àº »êÈ­ È¿¼Ò ¿°»ö¿¡ ÁøÇÏ°Ô ¿°»öµÇ´Â ÀûÀº °¢Áø ±Ù¼¶À¯°¡ ³ªÅ¸³ªÁö¸¸ °¢Áø ±Ù¼¶À¯´Â ±ä°æ¿ø¼º ±Ù À§Ãà°ú °°ÀÌ ÁýÇÕÀ» ÀÌ·ç¾î ³ªÅ¸³ªÁö ¾Ê°í Á¤»ó ±Ù¼¶À¯ »çÀÌ¿¡ »êÀçÇÑ´Ù. ºñ´ë ±Ù¼¶À¯µéÀº ÈçÈ÷ ³ªÅ¸³ªÁö¸¸ Á᫐ ÇÙ, ±Ù¼¶À¯ ºÐÇÒ°ú ¼¶À¯È­´Â ÈçÇÏÁö ¾Ê´Ù.
  • juvenile epithelial corneal dystrophy
    ¿¬¼Ò±â °¢¸· »óÇÇ ¼¼Æ÷ ÀÌ¿µ¾çÁõ
  • progressive muscular dystrophy
    ÁøÇ༺ ±Ù ÀÌ¿µ¾çÁõ
  • reflex sympathetic dystrophy
    ¹Ý»ç¼º ±³°¨¼º ¹ßÀ° ÀÌ»ó, ¹Ý»ç¼º ±³°¨½Å°æ ¹ßÀ° ÀÌ»ó, ¹Ý»ç¼º ±³°¨½Å°æ¼º ÀÌ¿µ¾çÁõ, ¹Ý»ç¼º ±³°¨½Å°æ ¿µ¾ç Àå¾Ö
    µ¿ÀǾî=causalgia, Sudeck's atro
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
dystrophy, myotonic Inherited disease with myotonia (irritability and prolonged contraction of muscles), mask-like face, premature balding, cataracts, and cardiac disease. Due to a trinucleotide repeat (a stuttering sequence of three bases) in the DNA.
(12 Dec 1998)
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
myotonic dystrophy <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting.
A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene).
Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well.
The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene.
Inheritance: autosomal dominant.
(29 Dec 1997)
myotonic Pertaining to or exhibiting myotonia.
(05 Mar 2000)
myotonic cataract Cataract occurring in myotonic dystrophy.
(05 Mar 2000)
adiposogenital dystrophy A disorder characterised primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioural abnormalities, and diabetes insipidus may occur. Frohlich's syndrome often is used synonymously for this disorder, although the original case involved a pituitary tumour; most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms.
Synonym: adiposis orchica, adiposogenital degeneration, adiposogenital dystrophy, adiposogenital syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism.
Origin: L. Fr. G. Dys-, bad, + trophe, nourishment
(05 Mar 2000)
adult pseudohypertrophic muscular dystrophy Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal.
Compare: Duchenne dystrophy.
Synonym: Becker type tardive muscular dystrophy.
(05 Mar 2000)
Barnes' dystrophy A rare type of muscular dystrophy, in which muscles are often hypertrophic and stronger than normal, but later become weak and atrophic.
(05 Mar 2000)
Becker's muscular dystrophy An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles.
(27 Sep 1997)
Becker type muscular dystrophy A muscular dystrophy that has many of the clinical features of Duchenne muscular dystrophy e.g., symmetrical involvement of first the pelvicrural muscles and then the pectoral girdle and proximal upper extremity muscles; pseudohypertrophy, especially of the calf muscles but with a much later age of onset (35-45 years), and more benign course. X-linked inheritance.
(05 Mar 2000)
Becker type tardive muscular dystrophy Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal.
Compare: Duchenne dystrophy.
Synonym: Becker type tardive muscular dystrophy.
(05 Mar 2000)
benign pseudohypertrophic muscular dystrophy <neurology> An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles.
(06 Aug 1998)
macular dystrophy A group of disorders involving predominately the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch's membrane, choroid, or a combination of these tissues.
See: Stargardt's disease, Best's disease.
(05 Mar 2000)
map-dot-fingerprint dystrophy Fingerprint dystrophy accompanied by map-like patterns and microcystic epithelial inclusions.
(05 Mar 2000)
reflex sympathetic dystrophy A syndrome of pain and tenderness, usually to a hand or foot, associated with vasomotor instability, skin changes and rapid development of bony demineralisation (osteoporosis). Frequently will follow a localised trauma, stroke or peripheral nerve injury.
(27 Sep 1997)
reflex sympathetic dystrophy syndrome <syndrome> A condition that features a group of typical symptoms, including pain (often burning type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin.
(12 Dec 1998)
vitreo-tapetoretinal dystrophy Autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness.
Synonym: Favre's dystrophy.
(05 Mar 2000)
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