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Up to: Syndromic disease · Hereditary neuromuscular disease · Neuromuscular junction disease

Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.

5 trials tagged with this condition →

Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types Sub-types →
Congenital myasthenic syndrome 15 0 trials
Congenital myasthenic syndrome 5 0 trials
Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
Myasthenic syndrome, congenital, 22 0 trials
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials