Congenital myasthenic syndromes are rare hereditary (genetic) conditions resulting from a defect at the junction where your nerve stimulates muscle activity. That defect causes muscle weakness.
Congenital myasthenic syndromes may affect your nerve cells (presynaptic), your muscle cells (postsynaptic), or the space between your nerve and muscle cells (synaptic).
Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.
Congenital myasthenic syndromes care at Mayo Clinic
Nov. 19, 2016
- Engel AG, et al. Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. The Lancet. Neurology. 2015;14:420.
- De Souza PBS, et al. Clinical and genetic basis of congenital myasthenic syndromes. Arch Neuropsiquiatria. 2016;74:750.
- Engel AG. Congenital myasthenic syndromes. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2nd ed. Philadelphia, Pa.: Elsevier; 2015. http://www.clinicalkey.com. Accessed Oct. 13, 2016.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. July 1, 2016.
Congenital myasthenic syndromes