This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Collagen type VI-related disorders are caused by alterations (mutations) of collagen genes (COL6A1, COL6A2, or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy) and genetic testing that shows mutations in the collagen VI genes. The treatment depends on the signs and symptoms that are present and may include physiotherapy regarding stretching exercises, splinting, and mobility aids and orthopedic surgeries.
For more information, visit GARD.