Classification
All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others.
A classification for CMDs had been proposed in 2004 by Muntoni and Voit, based on genetic mutation.
- Genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibres.
- Genes encoding for putative or demonstrated glycosyltransferases, that in turn affect the glycosylation of dystroglycan, an external membrane protein of the basal membrane.
- Other
| Name | Abbreviation | Group | OMIM | Gene and locus |
|---|---|---|---|---|
| Laminin-α2–deficient CMD | MDC1A | basal membrane/extracellular matrix | 607855 | LAMA2 at 6q22-q23 |
| Ullrich congenital muscular dystrophy | UCMDs 1, 2 and 3 | basal membrane/extracellular matrix | 254090 | COL6A1 at 2q37, COL6A2 at 21q22.3, COL6A3 at 21q22.3 |
| Walker-Warburg syndrome | WWS | glycosylation of dystroglycan | 236670 | POMT1 at 9q34.1 and POMT2 at 14q24.3 |
| Muscle-eye-brain disease | MEB | glycosylation of dystroglycan | 253280 | POMGNT1 at 1p34-p33 |
| Fukuyama CMD | FCMD | glycosylation of dystroglycan | 253800 | FKTN at 9q31 |
| CMD plus secondary laminin deficiency 1 | MDC1B | glycosylation of dystroglycan | 604801 | ? at 1q42 |
| CMD plus secondary laminin deficiency 2 | MDC1C | glycosylation of dystroglycan | 606612 | FKRP at 19q13.3 |
| CMD with mental retardation and pachygyria | MDC1D | glycosylation of dystroglycan | 608840 | LARGE at 22q12.3-q13.1 |
| Rigid spine with muscular dystrophy Type 1 | RSMD1 | other | 602771 | SEPN1 at 1p36-p35 |
| 613204 | ITGA7 at 12q13 |
Read more about this topic: Congenital Muscular Dystrophy