Alpha-crystallinopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY ALPHA-B CRYSTALLINOPATHY MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED MFM2 CRYAB-related myofobrillar myopathy |
| Number of Symptoms | 26 |
| OrphanetNr: | 98910 |
| OMIM Id: |
608810
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| ICD-10: |
G71.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Adult onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Myofibrillar myopathy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of alphaB-cristallin -Rare genetic disease |
Symptom Information:
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(HPO:0000467) | Neck muscle weakness | 29 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0009072) | Decreased Achilles reflex | 2 / 7739 | ||||
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(HPO:0009027) | Foot dorsiflexor weakness | 45 / 7739 | ||||
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(HPO:0001639) | Hypertrophic cardiomyopathy | 137 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0002747) | Respiratory insufficiency due to muscle weakness | 48 / 7739 | ||||
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(HPO:0003458) | EMG: myopathic abnormalities | 38 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0003694) | Late-onset proximal muscle weakness | 3 / 7739 | ||||
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 | ||||
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(HPO:0003555) | Muscle fiber splitting | 11 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003736) | Autophagic vacuoles | 5 / 7739 | ||||
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(HPO:0003325) | Limb-girdle muscle weakness | 22 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Distal muscle weakness occurs initially | 2 / 7739 | ||||
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(OMIM) | Accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin | 1 / 7739 | ||||
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(OMIM) | Z-disks with abnormal homogeneous material | 1 / 7739 | ||||
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(OMIM) | Proximal muscle weakness occurs later | 3 / 7739 | ||||
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(OMIM) | [DEL]EMG shows myopathic changes | 27 / 7739 | ||||
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(OMIM) | Velopharyngeal muscle weakness | 1 / 7739 | ||||
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(OMIM) | Fiber size variation | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both ... |
| Clinical Description OMIM |
Fardeau et al. (1978) described an autosomal dominant muscle disorder with involvement of skeletal and velopharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances, and lens opacities. The proband had a history of mild muscle weakness and easy fatigability ... |
| Molecular genetics OMIM |
In affected members from the family reported by Fardeau et al. (1978), Vicart et al. (1998) identified a heterozygous mutation in the CRYAB gene (123590.0001). In 2 adult patients with myofibrillar myopathy, Selcen and Engel (2003) ... |