Du søkte etter muskeldystrofier og fikk 37 treff. Viser side 1 av 4.
-
Muscular dystrophies
Last reviewed: March 2020Last updated: March 2019SummaryDuchenne muscular dystrophy (DMD) is highlighted as the most common and most rapidly progressive muscular dystrophy, with most patients losing the ability to walk by 12 years of age and requiring ven
-
muskeldystrofi
Muskeldystrofier er en gruppe av arvelig betingede primære muskelsykdommer med mer eller mindre uttalt muskelsvinn (muskelatrofi). Mest kjent er Beckers muskeldystrofi og Duchennes muskeldystrofi. Faktaboks Etymologi av gresk dys-, ‘dårlig’, og trofe,…
-
Limb-girdle muscular dystrophy
#158810 #609200 (gdp)-mannose 125660 128239 13-gene 158810 1b 1c 232300 2b 2c 2d 2f 2p 3'-kinase 3'kinase 3-kinase 3￢ﾀﾙkinase 603009 606072 608662 609200 610032 611332 614631 615320 acid-maltase adduction adductor adult adult-onset adulthood adults alfa-2
-
Emery-Dreifuss muscular dystrophy
118200 125660 176670 2b1 300163 602771 606210 608441 608442 612048 achilles achilles' adult adult-onset adults afl aggregates aicd ambulatory anectine anesthesia anesthesias anesthesiology anesthetic anesthetically anesthetics ankle arms arrhythmia arrhyt
-
Facioscapulohumeral muscular dystrophy
#160900 #602668 10;11 10q 11 160900 232300 4q 602668 606009 aaem aanem abduction accord aches aching acid-maltase adult adults aerobic akfluor algias allele alleles angles anti-histone anti-mitochondrial anti-muscle anti-pm anti-pm-scl anti-signal arm arm
-
8.28 Kardiologisk oppfølging ved genetiske muskelsykdommer - Generell veileder i pediatri - retningslinje
… Implantert metall (pacemaker/ICD, metallstaver etter skoliosekirurgi) kan forhindre en MR. Det er vist at mange barn med muskeldystrofier har MR-forandringer (fibrose) i myokard veldig tidlig i sykdomsforløp, evt. allerede ved diagnosetidspunkt.…
-
Oculopharyngeal, distal, and congenital muscular dystrophies
#158810 #160500 #194050 #254090 #600334 #605820 #606070 #609200 #614065 102565 128239 158810 160500 194050 1b 2-alpha 254090 268000 600334 601846 602771 603518 604454 605820 606009 606070 606210 608662 609200 610099 614065 614631 614828 a1 a3 absent acqui
-
Patient education: Muscular dystrophy (The Basics)
adult adulthood adults arthrogryposi arthrogryposis ataluren avi4658 babie babies babies' baby child childhood childhoods children childs disorders duchenne dysplasia-muscular dystrophy edmd eteplirsen european european) exondys exondys51 facio-scapulo fa
-
Patient education: Overview of muscular dystrophies (Beyond the Basics)
#160900 #254090 #602668 12;16 160900 254090 602668 arthrogryposi arthrogryposis ataluren avi4658 azacort babie babies babies' baby becker becker's beckers beckers' bound bypassing calcort cardiomega cardiomegaly carrier-free cerebro-ocular child childhood
-
Duchenne and Becker muscular dystrophy: Clinical features and diagnosis
(little (unconjugated/carrier-free) 102 14.18 14;18 166490 180901 232300 328 378 46xy 603209 604710 achilles achilles' acid-maltase add adhd affects age-associated alanine aldolase aldolases aminotransferaseto-alanine amniocentesi amniocentesis analysis a