congenital myasthenic syndrome 9
Findings
No curated finding names congenital myasthenic syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
Definition from the Mondo Disease Ontology (MONDO:0014587), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Axial muscle weaknessHPOHP:0003327
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 7 of 7 reported patients
- Fatigable weaknessHPOHP:0003473
- 1 of 1 reported patient
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- OphthalmoplegiaHPOHP:0000602
Show the remaining 14
- Gowers signHPOHP:0003391
- 5 of 6 reported patients
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 2 of 3 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 3 of 7 reported patients
- HyperlordosisHPOHP:0003307
- 2 of 5 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MUSKHGNC:7525
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: congenital myasthenic syndrome 9
- Also called
- CMS9congenital myasthenic syndrome caused by mutation in MUSKcongenital myasthenic syndrome type 9MUSK congenital myasthenic syndrome