inclusion body myopathy and brain white matter abnormalities
MONDO:0850514Mondo
Findings
No curated finding names inclusion body myopathy and brain white matter abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
23 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.
- Abdominal wall muscle weaknessHPOHP:0009023
- 11 of 11 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 11 of 11 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 11 of 11 reported patients
- Scapular wingingHPOHP:0003691
- 10 of 10 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 9 of 11 reported patients
- Low back painHPOHP:0003419
- 9 of 11 reported patients
- AreflexiaHPOHP:0001284
- 6 of 11 reported patients
- DysarthriaHPOHP:0001260
- 5 of 11 reported patients
- EMG: positive sharp wavesHPOHP:0030007
- 4 of 11 reported patients
- PtosisHPOHP:0000508
- 4 of 11 reported patients
- Cognitive impairmentHPOHP:0100543
- 3 of 11 reported patients
- FasciculationsHPOHP:0002380
- 3 of 11 reported patients
Show the remaining 11
- Weakness of facial musculatureHPOHP:0030319
- 3 of 11 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 10 reported patients
- DroolingHPOHP:0002307
- 2 of 11 reported patients
- Babinski signHPOHP:0003487
- 1 of 11 reported patients
- Angulated muscle fibersHPOHP:0034045
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- Fatty replacement of skeletal muscleHPOHP:0012548
Genes
1 gene
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.
- ANXA11HGNC:535
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023