Search
muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)
Pathology:
- muscular dystrophy
- muscle biopsy shows dystrophic changes, inflammation & severely decreased alpha-dystroglycan
Genetics:
- autosomal recessive
- associated with defects in fukutin (FKTN)
Clinical manifestations:
- progressive weakness of the pelvic & shoulder girdle muscles
- severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood
- MDDGC4 is a novel form of LGMD2 & has no brain involvement
Laboratory:
- increased serum creatine kinase
Management:
- remarkable clinical response to corticosteroids
Database Correlations
OMIM 611588
References
OMIM :accession 613158