Iranian Journal of Child Neurology

Abstract

Objective

Ullrich congenital muscular dystrophy is a rather severe type of congenital

muscular dystrophy with early onset features related to motor development.

In general it is inherited in autosomal recessive principles, however in the

Western world mostly seen with de novo dominant mutations in the collagen

VI genes. Milder form of the condition is the Bethlem myopathy. There may be

overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has

been some radical efforts for cure especially through the apoptosis cascades.

Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlem

myopathy, autophagy.