childhood-onset nemaline myopathy
Findings
No curated finding names childhood-onset nemaline myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Definition from the Mondo Disease Ontology (MONDO:0015738), read 2026-09-29. CC BY 4.0.
Features
45 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.
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Nemaline bodiesHPOHP:0003798
- Very frequent (80% to 99% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized limb muscle atrophyHPOHP:0009055
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Increased muscle lipid contentHPOHP:0009058
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- Limb muscle weaknessHPOHP:0003690
- Frequent (30% to 79% of cases)
Reported absent (1)
- Poor fine motor coordinationHPOHP:0007010
Show the remaining 33
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Muscle stiffnessHPOHP:0003552
- Frequent (30% to 79% of cases)
- Neuromuscular dysphagiaHPOHP:0002068
- Frequent (30% to 79% of cases)
- Spinal rigidityHPOHP:0003306
- Frequent (30% to 79% of cases)
- Type 1 muscle fiber predominanceHPOHP:0003803
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
Genes
8 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
- KBTBD13HGNC:37227
- Supportive · Orphanet · Autosomal dominant · 2021
- KLHL41HGNC:16905
- Supportive · Orphanet · Autosomal dominant · 2021
- MYPNHGNC:23246
- Supportive · Orphanet · Autosomal dominant · 2021
- NEBHGNC:7720
- Supportive · Orphanet · Autosomal dominant · 2021
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
Other names
1 name
Resolves to: childhood-onset nemaline myopathy
- Also called
- mild nemaline myopathy