Alpha-Dystroglycanopathy

It is a group of muscular dystrophy with a severe course, representing a wide spectrum of neurological and physical disorders. It starts in infancy and brain involvement may be encountered with seizures. Respiratory and cardiac complications may also occur as symptoms in the future. The disease group is seen as autosomal recessive.

Mutations in a number of genes can cause this disease. New genes that can cause dystroglycanopathy continue to be discovered.

After the clinical features, it can be decided from which gene the disease occurs with a gene test. These disorders are named as diseases that are grouped according to different symptoms as a result of different genes.