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Definition

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. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients.

Acronym

CMS21

Keywords

Congenital myasthenic syndrome

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.