COL12-RD is a spectrum group of diseases that can present with mild or severe symptoms. It is possible to gain, protect or lose the ability to walk. Symptoms include muscle weakness, hypermobility, joint contractures, scoliosis or kyphosis, delayed gross motor skills. In the future, respiratory failure and as a result, a nighttime respiratory support device may be required.
The disease can manifest differently in each patient. Genetic testing is required to confirm the presence of mutations in the COL12A1 gene. The disease may occur as an autosomal dominant or autosomal recessive inheritance.
COL12A1 gene mutations are associated with autosomal dominant Bethlem myopathy and autosomal recessive Ullrich congenital muscular dystrophy, as well as autosomal dominant and recessive myopathic Ehlers-Danlos syndrome.