autosomal recessive centronuclear myopathy
Findings
No curated finding names autosomal recessive centronuclear myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Definition from the Mondo Disease Ontology (MONDO:0015705), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Gowers signHPOHP:0003391
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Progressive muscle weaknessHPOHP:0003323
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- RetrognathiaHPOHP:0000278
- Frequent (30% to 79% of cases)
- Waddling gaitHPOHP:0002515
- Frequent (30% to 79% of cases)
Show the remaining 24
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Occasional (5% to 29% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Bifid uvulaHPOHP:0000193
- Occasional (5% to 29% of cases)
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: autosomal recessive centronuclear myopathy
- Also called
- AR-CNMcentronuclear myopathy, autosomal recessive