ORPHA:502423
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Synonyms: Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Infancy
- Status
- active
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome |
| fr | Syndrome de myopathie mitochondriale-ataxie cérébelleuse-rétinopathie pigmentaire | Syndrome de myopathie mitochondriale-atrophie cérébelleuse-rétinopathie pigmentaire |
| de | Mitochondriale Myopathie-zerebelläre Ataxie-Pigmentretinopathie-Syndrom | Mitochondriale Myopathie-zerebelläre Atrophie-Pigmentretinopathie-Syndrom |
| es | Síndrome de miopatía mitocondrial-ataxia cerebelosa-retinopatía pigmentaria | Síndrome de miopatía mitocondrial-atrofia cerebelosa-retinopatía pigmentaria |
| it | Sindrome miopatia mitocondriale-atassia cerebellare-retinite pigmentosa | |
| nl | Mitochondriale myopathie - cerebellaire ataxie - pigmentretinopathie-syndroom | Mitochondriale myopathie - cerebellaire atrofie - pigmentretinopathie-syndroom |
| pt | Síndrome de miopatia mitocondrial-ataxia cerebelosa-retinopatia pigmentosa | Síndrome de miopatia mitocondrial-atrofia cerebelosa-retinopatia pigmentosa |
| pl | Zespół miopatii mitochondrialnej, ataksji móżdżkowej i retinopatii barwnikowej | = en |
| cs | Mitochondriální syndrom zahrnující myopatii, mozečkovou ataxii a pigmentovou retinopatii | Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome · Syndrom zahrnující mitochondriální myopatii, cerebelární atrofii a pigmentovou retinopatii |
| uk | Синдром мітохондріальної міопатії-мозочкової атаксії-пігментної ретинопатії | Синдром мітохондріальної міопатії-мозочкової атрофії-пігментної ретинопатії |
| zh | 线粒体肌病-小脑共济失调-色素性视网膜病变综合征 | 线粒体肌病-小脑萎缩-色素性视网膜病变综合征 |
| tr | Mitokondriyal miyopati-serebellar ataksi-pigmenter retinopati sendromu | Mitokondriyal miyopati-serebellar atrofi-pigmenter retinopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617675 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | attributed | validated |
| MONDO | 0044714 | E | validated | |
| UMLS | C4540096 | 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 (5):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MSTO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29678 | ENSG00000125459 | 617619 | 1q22 | misato mitochondrial distribution and morphology regulator 1 | 28544275[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 28544275[PMID]_28554942[PMID]_29339779[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28544275[PMID]_28554942[PMID]_29339779[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
47 annotations · validated 2018-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100887 | Abnormality of globe size | |
| HP:0000739 | Anxiety | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000716 | Depression | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0003391 | Gowers sign | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0000836 | Hyperthyroidism | |
| HP:0001265 | Hyporeflexia | |
| HP:0000601 | Hypotelorism | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0009051 | Increased muscle glycogen content | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0012032 | Lipoma | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003737 | Mitochondrial myopathy | Diagnostic criterion |
| HP:0001270 | Motor delay | |
| HP:0003326 | Myalgia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001761 | Pes cavus | |
| HP:0000786 | Primary amenorrhea | |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0100874 | Thick hair | |
| HP:0001337 | Tremor | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0100753 | Schizophrenia | |
| Very rare (<4-1%) | ||
| HP:0000543 | Optic disc pallor | |
| HP:0000580 | Pigmentary retinopathy | Diagnostic criterion |
Annotation source: 28544275[PMID]_28554942[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502423
- This record as JSON: /data/d/502423.json