Congenital Myasthenic Syndrome (DOK7)

Congenital myasthenic syndrome 10 is an autosomal recessive disorder caused by pathogenic variants in the gene DOK7. The onset of this condition is typically in infancy or childhood, and the disease has variable severity in affected individuals. Progressive weakness occurs in limb-girdle associated areas, facial muscles, the muscles that controls eye movements, and the muscles responsible for swallowing and chewing. As a result, individuals experience feeding difficulties, ptosis (drooping of the eyelids), reduced ambulation and movement, and delayed motor development. Breathing difficulties can be triggered by fever or illness and result in apnea and cyanosis. Life expectancy may be reduced depending on the severity of symptoms. A severe lethal form of myasthenia has been reported in a family with clinical features consistent with fetal akinesia deformation sequence (FADS). No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):