myopathy, distal, with rimmed vacuoles
MONDO:0014945Mondo
Findings
No curated finding names myopathy, distal, with rimmed vacuoles yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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
- 3 of 3 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 4 of 4 reported patients · Adult onset
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- 2 of 2 reported patients
- Facial palsyHPOHP:0010628
- 2 of 3 reported patients
- Scapular wingingHPOHP:0003691
- 2 of 3 reported patients
- Babinski signHPOHP:0003487
- 0 of 2 reported patients
- Absent Achilles reflexHPOHP:0003438
- Elevated circulating creatine kinase activityHPOHP:0003236
- Increased variability in muscle fiber diameterHPOHP:0003557
- Rimmed vacuolesHPOHP:0003805
- Skeletal muscle atrophyHPOHP:0003202
- Steppage gaitHPOHP:0003376
Show the remaining 1
- Z-band streamingHPOHP:0020203
Where it sits
Other names
2 names
Resolves to: myopathy, distal, with rimmed vacuoles
- Also called
- DMRVmyopathy, distal, with rimmed vacuoles; DMRV