Congenital myasthenic syndrome 8

MONDO:0014052

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.

Also known as: AGRN congenital myasthenic syndrome, CMS8, congenital myasthenic syndrome 8, congenital myasthenic syndrome caused by mutation in AGRN, congenital myasthenic syndrome type 8, myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, myasthenic syndrome, congenital, type 8, myasthenic syndrome, congenital, 8

1 clinical trial for this condition and its sub-types, 1 tagged with Congenital myasthenic syndrome 8 itself.

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Part of

↑ Postsynaptic congenital myasthenic syndrome (3) ↑ Presynaptic congenital myasthenic syndrome (1)

Including sub-types (1) Tagged with Congenital myasthenic syndrome 8 (1)

Trials to join now! 1

Researchers track rare muscle disease to uncover its secrets

Knowledge-focused Recruiting now

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…

Sponsor: argenx • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC

Congenital myasthenic syndrome 8

Where it sits in the disease tree

Researchers track rare muscle disease to uncover its secrets