How are congenital muscular dystrophies (CMDs) classified?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Several authors of review articles have proposed classifications for the congenital muscular dystrophies. Recent classification schemes follow the following pattern: [2, 3]

Defects of structural proteins

  • Merosin deficient CMD (MDC1A); Lamininα2, Gene LAMA 2 (6q22-q23)

  • UCMD1; Collagen 6A1

  • UCMD2; Collagen 6A2

  • UCMD3; Collagen 6A3

  • Integrin α7-deficient CMD; Integrin α7

  • CMD with epidermolysis bullosa; Plectin

Defects of glycosylation

  • Walker-Walburg syndrome; multiple genes

  • Muscle-eye brain disease, multiple genes

  • Fukuyama CMD; Fukutin

  • Other phenotypes associated with mutations in glycosyltransferase genes

Proteins of the endoplasmic reticulum and nucleus

  • Rigid spine syndrome; Selenoprotein N, 1

  • Rigid spine syndrome; Selenocysteine insertion sequence-binding protein 2

  • LMNA-deficient CMD; Laminin A/C

Mitochondrial membrane protein

  • CMD with mitochondrial structural abnormalities; Choline kinase beta

The OMIM classification of defects of glycosylation is as follows:

  • Muscular dystrophy-dystroglycanopathy A1 (MDDGA1 ) – POMT1 mutation

  • MDDGA2 – POMT2 mutation

  • MDDGA3 – POMGNT1 mutation

  • MDDGA4 – Fukutin mutation

  • MDDGA5 – FKRP mutation

  • MDDGA6 – LARGE mutation

  • MDDGA7 – ISPD mutation

  • MDDGA8 – GTDC2 mutation

  • MDDGA10 – TMEM5 mutation

  • MDDGA11 – G3GALNT2 mutation

  • MDDGA12 – SGK196 mutation

  • MDDGA – B3GNT1 mutation


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