What is megaconial congenital muscular dystrophy?
Megaconial congenital muscular dystrophy (CMD) (OMIM#60251) is a rare genetic congenital muscular dystrophy characterised by early onset of floppiness, muscle weakness, global developmental delay with intellectual disabilities. Some patients also develop cardiomyopathy with heart dysfunction or have ichthyosis-like skin changes. Muscle enzymes are raised, and muscle biopsy showed characteristic enlarged mitochondria located at the periphery of muscle fibers.
What causes megaconial congenital muscular dystrophy?
It is caused by CHKB gene mutation and is a rare autosomal recessive disorder. It means the two mutated CHKB genes in the affected child, are passed on by asymptomatic parents, usually one from each parent.
How to diagnose megaconial congenital muscular dystrophy?
The diagnosis can be confirmed from the presenting clinical symptoms with the compatible muscle biopsy and genetic study findings.
How common is megaconial congenital muscular dystrophy?
The prevalence of the megaconial CMD was not known. It was mentioned in the Orphanet website (www.orpha.net) the estimated prevalence is < 1/1000,000.
CHKB