typical nemaline myopathy
Findings
No curated finding names typical nemaline myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Definition from the Mondo Disease Ontology (MONDO:0015737), read 2026-09-29. CC BY 4.0.
Features
39 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
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Fatigable weakness of distal limb musclesHPOHP:0030198
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- Limb-girdle muscle weaknessHPOHP:0003325
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
Show the remaining 27
- Type 1 muscle fiber predominanceHPOHP:0003803
- Frequent (30% to 79% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Facial diplegiaHPOHP:0001349
- Occasional (5% to 29% of cases)
- Fatigable weakness of respiratory musclesHPOHP:0030196
- Occasional (5% to 29% of cases)
- Fatiguable weakness of proximal limb musclesHPOHP:0030200
Genes
6 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.
- ACTA1HGNC:129
- Supportive · Orphanet · Autosomal dominant · 2021
- CFL2HGNC:1875
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:6649HGNC:6649
- Supportive · Orphanet · Autosomal dominant · 2021
- KLHL41HGNC:16905
- Supportive · Orphanet · Autosomal dominant · 2021
- NEBHGNC:7720
- Supportive · Orphanet · Autosomal dominant · 2021
- TPM2HGNC:12011
Where it sits
- A kind of
- congenital nervous system disorder
- hereditary neurological disease
- nemaline myopathy
- neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
- neuromuscular disease caused by qualitative or quantitative defects of nebulin
- neuromuscular disease caused by qualitative or quantitative defects of tropomyosin