nebulin-related early-onset distal myopathy
MONDO:0018371Mondo
Findings
No curated finding names nebulin-related early-onset distal myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
16 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.
- Ankle flexion contractureHPOHP:0006466
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Frequent (30% to 79% of cases)
- Nemaline bodiesHPOHP:0003798
- Frequent (30% to 79% of cases)
- Progressive distal muscle weaknessHPOHP:0009063
- Frequent (30% to 79% of cases)
- Sternocleidomastoid amyotrophyHPOHP:0012036
- Frequent (30% to 79% of cases)
- Weakness of long finger extensor musclesHPOHP:0009077
- Frequent (30% to 79% of cases)
- Weakness of the intrinsic hand musclesHPOHP:0009005
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Occasional (5% to 29% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- Occasional (5% to 29% of cases)
Show the remaining 4
- Progressive proximal muscle weaknessHPOHP:0009073
- Occasional (5% to 29% of cases)
- Slender buildHPOHP:0001533
- Occasional (5% to 29% of cases)
- Weakness of facial musculatureHPOHP:0030319
- Occasional (5% to 29% of cases)
- CardiomyopathyHPOHP:0001638
- Very rare (1% to 4% of cases)
Where it sits
- A kind of