myofibrillar myopathy 2
Findings
No curated finding names myofibrillar myopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Definition from the Mondo Disease Ontology (MONDO:0012130), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
35 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.
- Skeletal muscle autophagosome accumulationHPOHP:0025717
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DysphoniaHPOHP:0001618
- Very frequent (80% to 99% of cases)
- Progressive distal muscle weaknessHPOHP:0009063
- Very frequent (80% to 99% of cases)
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Frequent (30% to 79% of cases)
- Accumulation of muscle fiber desminHPOHP:0030225
- Frequent (30% to 79% of cases)
Show the remaining 23
- Limb-girdle muscle weaknessHPOHP:0003325
- Frequent (30% to 79% of cases)
- Muscle fiber inclusion bodiesHPOHP:0100299
- Frequent (30% to 79% of cases)
- Neck muscle weaknessHPOHP:0000467
- Frequent (30% to 79% of cases)
- Posterior capsular cataractHPOHP:0100020
- Frequent (30% to 79% of cases)
- Absent Achilles reflexHPOHP:0003438
- 1 of 2 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 2 reported patients
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.
- CRYABHGNC:2389
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: myofibrillar myopathy 2
- Also called
- alpha-B crystallinopathyautosomal dominant distal myopathy caused by mutation in CRYABCRYAB autosomal dominant distal myopathyCRYAB-related myofibrillar myopathylate-onset distal crystallinopathymyofibrillar myopathy type 2myopathy, myofibrillar, type 2