{"id":85025,"date":"2026-03-20T11:11:54","date_gmt":"2026-03-20T09:11:54","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/distrofie-miotonica-tip-1-dm1-analiza-expansiunilor-ctg-in-gena-dmpk\/"},"modified":"2026-03-24T10:06:25","modified_gmt":"2026-03-24T08:06:25","slug":"distrofie-miotonica-tip-1-dm1-analiza-expansiunilor-ctg-in-gena-dmpk","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/distrofie-miotonica-tip-1-dm1-analiza-expansiunilor-ctg-in-gena-dmpk\/","title":{"rendered":"Distrofie miotonica tip 1 (DM1) – analiza expansiunilor CTG in gena DMPK"},"content":{"rendered":"

Distrofia miotonic\u0103 tip 1 (DM1) este o afec\u021biune genetic\u0103 autozomal dominant\u0103 cauzat\u0103 de expansiunea anormal\u0103 a repeti\u021biilor trinucleotidice CTG <\/b>\u00een regiunea 3\u2019 necodant\u0103 a genei DMPK.<\/b><\/p>\n

\u00cen mod normal, num\u0103rul de repeti\u021bii CTG este stabil (5\u201337 repeti\u021bii), \u00eens\u0103 \u00een DM1 acesta este semnificativ crescut (\u226550 repeti\u021bii), duc\u00e2nd la disfunc\u021bii celulare progresive. Severitatea bolii \u0219i v\u00e2rsta de debut sunt corelate cu dimensiunea expansiunii, fenomen cunoscut sub denumirea de anticipa\u021bie genetic\u0103.<\/b><\/p>\n

Testul permite identificarea \u0219i cuantificarea expansiunii CTG, fiind esen\u021bial pentru confirmarea diagnosticului \u0219i evaluarea riscului familial.<\/p>\n

Afec\u021biuni sau indica\u021bii asociate:<\/h3>\n
    \n
  • Distrofia miotonic\u0103 tip 1 (boala Steinert);<\/li>\n
  • Miotonie (dificultate \u00een relaxarea muscular\u0103);<\/li>\n
  • Sl\u0103biciune muscular\u0103 progresiv\u0103;<\/li>\n
  • Cataract\u0103 precoce;<\/li>\n
  • Tulbur\u0103ri de conducere cardiac\u0103;<\/li>\n
  • Tulbur\u0103ri endocrine (ex. diabet, hipogonadism);<\/li>\n
  • Forme congenitale sau infantile de DM1.<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103:<\/h3>\n
      \n
    • Pacien\u021bilor cu suspiciune clinic\u0103 de distrofie miotonic\u0103;<\/li>\n
    • Persoanelor cu istoric familial de DM1;<\/li>\n
    • Cuplurilor care planific\u0103 o sarcin\u0103 (screening genetic);<\/li>\n
    • Speciali\u0219tilor \u00een neurologie, genetic\u0103 medical\u0103 \u0219i medicin\u0103 intern\u0103.<\/li>\n<\/ul>\n

      Metodologie de testare:<\/h3>\n

      Analiz\u0103 molecular\u0103 pentru detectarea expansiunilor CTG \u00een gena DMPK<\/b>, utiliz\u00e2nd:<\/p>\n

      PCR (Polymerase Chain Reaction);<\/b><\/p>\n

      TP-PCR (Triplet-Primed PCR) <\/b>pentru eviden\u021bierea expansiunilor mari;<\/p>\n

      metode complementare pentru estimarea dimensiunii repeti\u021biilor.<\/p>\n

      Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n
        \n
      • Confirm\u0103 diagnosticul molecular al distrofiei miotonice tip 1;<\/li>\n
      • Permite diferen\u021bierea de alte distrofii musculare;<\/li>\n
      • Ofer\u0103 informa\u021bii despre severitatea poten\u021bial\u0103 a bolii;<\/li>\n
      • Sus\u021bine consilierea genetic\u0103 \u0219i evaluarea riscului de transmitere;<\/li>\n
      • Contribuie la managementul clinic \u0219i monitorizarea complica\u021biilor.<\/li>\n<\/ul>\n

        Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n
          \n
        • Dimensiunea exact\u0103 a expansiunilor foarte mari poate fi dificil de determinat cu precizie;<\/li>\n
        • Nu evalueaz\u0103 impactul clinic individual sau evolu\u021bia bolii;<\/li>\n
        • Interpretarea necesit\u0103 corelare clinic\u0103;<\/li>\n
        • Nu detecteaz\u0103 alte muta\u021bii rare \u00een gena DMPK (non-expansiuni).<\/li>\n<\/ul>\n

          Analize asociate recomandate:<\/h3>\n
            \n
          • Evaluare neurologic\u0103;<\/li>\n
          • Electrocardiogram\u0103 (ECG) \u0219i monitorizare cardiologic\u0103;<\/li>\n
          • Testare genetic\u0103 familial\u0103;<\/li>\n
          • Consiliere genetic\u0103;<\/li>\n
          • Testare prenatal\u0103 (\u00een cazuri selectate).<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

            Test genetic molecular pentru detectarea expansiunilor repetitivelor CTG<\/b> \u00een gena DMPK<\/b>, asociate cu distrofia miotonic\u0103 tip 1 (DM1)<\/b>, cea mai frecvent\u0103 form\u0103 de distrofie muscular\u0103 la adult.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-85025","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t