ORPHA:401768
Proximal myopathy with extrapyramidal signs
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal myopathy with extrapyramidal signs | |
| fr | Myopathie proximale avec signes extrapyramidaux | |
| de | Proximale Myopathie mit extrapyramidalen Zeichen | |
| es | Miopatía proximal con signos extrapiramidales | |
| it | Miopatia prossimale con segni extrapiramidali | |
| nl | Proximale myopathie met extrapiramidale tekenen | |
| pt | Miopatia proximal com sinais extrapiramidais | |
| pl | Miopatia proksymalna z objawami pozapiramidowymi | |
| cs | Proximální myopatie s extrapyramidovými příznaky | |
| uk | Проксимальна міопатія з екстрапірамідними порушеннями | |
| zh | 近端肌病伴锥体外系体征 | |
| tr | Ekstrapiramidal belirtiler ile seyreden proksimal miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615673 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| MONDO | 0014300 | E | validated | |
| UMLS | C4749430 | E | validated | |
| GARD | 12978 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MICU1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1530 | ENSG00000107745 | 605084 | 10q22.1 | mitochondrial calcium uptake 1 | 24336167[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 24336167[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24336167[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.
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HPO phenotypes
25 annotations · validated 2018-06-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0030230 | Central core regions in muscle fibers | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0002072 | Chorea | |
| HP:0009046 | Difficulty running | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0004305 | Involuntary movements | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002322 | Resting tremor | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000252 | Microcephaly | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000648 | Optic atrophy | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000508 | Ptosis | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0000365 | Hearing impairment | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
Annotation source: 24336167[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401768
- This record as JSON: /data/d/401768.json