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congenital myasthenic syndrome 16

Disease Summary
Associated Targets (5)
Tbio

4

Tclin

1


Mondo Description Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.
Uniprot Description A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.
Mondo Term and Equivalent IDs
MONDO:0013620:  congenital myasthenic syndrome 16