Bethlem myopathy


Also found in: Wikipedia.

Bethlem myopathy

A rare autosomal dominant proximal myopathy (OMIM:158810) of early childhood onset characterised by joint contractures, most often affecting the elbows and ankles.  

Molecular pathology
Caused by defects of:
▪ COL6A1, which encodes the alpha 1 subunit;
▪ COL6A2, which encodes the alpha 2 subunit; and
▪ COL6A3, which encodes the alpha 3 subunit.

Bethlem myopathy

A rare, autosomal dominant form of limb-girdle muscular dystrophy that becomes clinically obvious in early childhood. It is usually slowly progressive, gradually resulting in weakness that may limit the ability to walk independently. Muscle contractures, e.g., of the hands, ankles, and elbows, are characteristic.
References in periodicals archive ?
Background: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM).
sup][1],[2] These myopathies encompass a spectrum of disorders, including Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), autosomal dominant limb-girdle muscular dystrophy (LGMD), and autosomal recessive myosclerosis myopathy.
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Following his father's diagnosis with Bethlem Myopathy - a rare form of Muscular Dystrophy that affects one in 250,000 people - Adam had a chance of being diagnosed.
The US patent covers specifically the treatment or prevention of Ullrich congenital muscular dystrophy, Bethlem myopathy, or intermediate clinical manifestations.