Alpha-B crystallin-related late-onset myopathy
Synonyms: Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-B crystallin-related late-onset myopathy | Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy |
| fr | Myopathie tardive associée à l'alpha-B cristalline | Cristallinopathie distale tardive · Myopathie distale tardive associée à l'alpha-B cristalline |
| de | Alpha-B Crystallin-abhängige spät beginnende Myopathie | Alpha-B Crystallin-abhängige spät beginnende distale Myopathie · Spät beginnende distale Cristallinopathie |
| es | Miopatía de inicio tardío asociada a alfa-B-cristalina | Cristalinopatía distal de inicio tardío · Miopatía distal de inicio tardío asociada a alfa-B-cristalina |
| it | Miopatia a esordio tardivo correlata alla alfa - B cristallina | |
| nl | Alfa B-crystallinegerelateerde myopathie met late aanvang | Alfa B-crystallinegerelateerde distale myopathie met late aanvang · Distale crystallinopathie met late aanvang |
| pt | Miopatia de início tardio alfa-B cristalina-relacionada | Miopatia distal de início tardio relacionado com a alfa-B cristalina |
| pl | Dystlana miopatia o późnym początku związana z Alfa-B krystaliną | Dystlana krystalinopatia o późnym początku |
| cs | Distální myopatie s pozdním nástupem související s alfa-B krystalinem | Distální krystalinopatie s pozdním nástupem |
| uk | Альфа-В-кристалін-залежна міопатія пізнього початку | Альфа-В-кристалінозалежна дистальна міопатія з пізнім початком, повязана з кристаліном · Пізня дистальна кристалінопатія з пізнім початком |
| zh | Alpha-B晶状体蛋白相关迟发性肌病 | Alpha-B晶格蛋白相关迟发性远端肌病 |
| tr | Alfa-B kristalin-ilişkili geç-başlangıçlı miyopati | Geç başlangıçlı distal kristalinopati · Alfa-B kristaline bağlı geç başlangıçlı distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608810 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | attributed | validated |
| MONDO | 0012130 | E | validated | |
| UMLS | C5191079 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98910Alpha-crystallinopathy
rare genetic diseases; rare neurological diseases - ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRYAB | Disease-causing germline mutation(s) in | Assessed | HGNC:2389 | ENSG00000109846 | 123590 | 11q23.1 | crystallin alpha B | 20171888[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 21920752[PMID]_9731540[PMID]_14681890[PMID]_20171888[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21920752[PMID]_9731540[PMID]_14681890[PMID]_20171888[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2019-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0009063 | Progressive distal muscle weakness | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0030225 | Accumulation of muscle fiber desmin | |
| HP:0003736 | Autophagic vacuoles | |
| HP:0003327 | Axial muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | Diagnostic criterion |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001265 | Hyporeflexia | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0100299 | Muscle fiber inclusion bodies | |
| HP:0000467 | Neck muscle weakness | |
| HP:0100020 | Posterior capsular cataract | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | Diagnostic criterion |
| HP:0001349 | Facial diplegia | |
| HP:0001288 | Gait disturbance | |
| HP:0003552 | Muscle stiffness | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 570292[PMID]_8792816[PMID]_21920752[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399058
- This record as JSON: /data/d/399058.json