adult-onset nemaline myopathy
MONDO:0015739Mondo
Findings
No curated finding names adult-onset nemaline myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
Definition from the Mondo Disease Ontology (MONDO:0015739), read 2026-09-29. CC BY 4.0.
Features
28 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)
- Increased muscle lipid contentHPOHP:0009058
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Frequent (30% to 79% of cases)
- ParaproteinemiaHPOHP:0031047
- Frequent (30% to 79% of cases)
- Type 1 muscle fiber predominanceHPOHP:0003803
- Frequent (30% to 79% of cases)
- Upper limb muscle weaknessHPOHP:0003484
- Frequent (30% to 79% of cases)
- Bulbar signsHPOHP:0002483
- Occasional (5% to 29% of cases)
Reported absent (1)
- Poor fine motor coordinationHPOHP:0007010
Show the remaining 16
- Dilated cardiomyopathyHPOHP:0001644
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
- Flexion contractureHPOHP:0001371
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- HyporeflexiaHPOHP:0001265
- Occasional (5% to 29% of cases)