Congenital myasthenic syndrome

MONDO:0018940

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

Also known as: CMS, Congenital Myasthenic Syndromes, myasthenic syndrome, congenital, congenital MG, congenital myasthenia, erb-Goldflam syndrome, familial limb-girdle myasthenia, myasthenia gravis congenital

6 clinical trials for this condition and its sub-types, 6 tagged with Congenital myasthenic syndrome itself.

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Where it sits in the disease tree

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↑ Syndromic disease (7158) ↑ Hereditary neuromuscular disease (935) ↑ Neuromuscular junction disease (7)

Sub-types of Congenital myasthenic syndrome

Postsynaptic congenital myasthenic syndrome 0 trials · 3 incl. sub-types
14 sub-types
- Congenital myasthenic syndrome 10 3 trials
- Congenital myasthenic syndrome 17 1 trial
- Congenital myasthenic syndrome 8 1 trial
- Congenital myasthenic syndrome 9 1 trial
- Congenital myasthenic syndrome 11 0 trials
- Congenital myasthenic syndrome 16 0 trials
- Congenital myasthenic syndrome 19 0 trials
- Congenital myasthenic syndrome 1A 0 trials Sub-types →
- Congenital myasthenic syndrome 2A 0 trials
- Congenital myasthenic syndrome 2C 0 trials
- Congenital myasthenic syndrome 3A 0 trials
- Congenital myasthenic syndrome 3B 0 trials
- Congenital myasthenic syndrome 3C 0 trials
- Congenital myasthenic syndrome 4 0 trials Sub-types →
Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types
10 sub-types
- Congenital myasthenic syndrome 8 1 trial
- Congenital myasthenic syndrome 18 0 trials
- Congenital myasthenic syndrome 19 0 trials
- Congenital myasthenic syndrome 20 0 trials
- Congenital myasthenic syndrome 21 0 trials
- Congenital myasthenic syndrome 6 0 trials
- Congenital myasthenic syndrome 7 0 trials
- Myasthenic syndrome, congenital, 23, presynaptic 0 trials
- Myasthenic syndrome, congenital, 24, presynaptic 0 trials
- Myasthenic syndrome, congenital, 25, presynaptic 0 trials
Congenital myasthenic syndrome 15 0 trials
Congenital myasthenic syndrome 5 0 trials
Congenital myasthenic syndrome with tubular aggregates 0 trials
3 sub-types
- Congenital myasthenic syndrome 12 0 trials
- Congenital myasthenic syndrome 13 0 trials
- Congenital myasthenic syndrome 14 0 trials
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
Myasthenic syndrome, congenital, 22 0 trials
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials

Most studied deeper sub-types

Congenital myasthenic syndrome 4A (0) Congenital myasthenic syndrome 4B (0) Congenital myasthenic syndrome 4C (0) Myasthenic syndrome, congenital, 1B, fast-channel (0)

Including sub-types (6) Tagged with Congenital myasthenic syndrome (6)

Trials to join now! 3 Not yet recruiting 2 Not yet finished but already full! 1

New hope for rare muscle disease: ARGX-119 enters human testing

Disease control Ongoing

This early-stage trial tests a new biologic drug called ARGX-119 in 16 adults with a rare genetic muscle weakness condition called DOK7-congenital myasthenic syndrome (CMS). The study aims to see if the drug is safe and how the body processes it. Participants will receive either …

Phase 1 • Sponsor: argenx • Aim: Disease control

Last updated Jul 26, 2026 00:00 UTC

Congenital myasthenic syndrome

Where it sits in the disease tree

Most studied deeper sub-types

New hope for rare muscle disease: ARGX-119 enters human testing