ORPHA:70595
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Synonyms: SANDO
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | SANDO |
| fr | Syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie | = en |
| de | Sensorische ataktische Neuropathie-Dysarthrie-Ophthalmoparese-Syndrom | SANDO · SANDO-Syndrom · Syndrom der sensorischen ataktischen Neuropathie, Dysarthrie und Ophthalmoparese |
| es | Síndrome de neuropatía atáxica sensitiva-disartria-oftalmoplejía | = en |
| it | Sindrone neuropatia atassica sensoriale-disartria-oftalmoparesi | = en |
| nl | Sensorische ataxische neuropathie - dysartrie - oftalmoparese-syndroom | = en |
| pt | Síndrome de neuropatia sensorial atáxica-disartria-oftalmoparésia | = en |
| pl | Neuropatia czuciowa - dyzartria - oftalmopareza | = en |
| cs | Senzoataktická ataktická neuropatie s dysartrií a oftalmoparézou | = en |
| uk | Синдром сенсорної атактичної нейропатії-дизартрії-офтальмопарезу | = en |
| zh | 感觉神经共济失调性神经病-构音障碍-眼肌麻痹综合征 | = en |
| tr | Duyusal ataksik nöropati-dizartri-oftalmoparezi sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607459 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | index | validated |
| MONDO | 0011835 | E | validated | |
| MeSH | C537583 | E | validated | |
| UMLS | C1843851 | E | validated | |
| GARD | 9998 | 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:254818Ataxia neuropathy spectrum
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TWNK | Candidate gene tested in | Not yet assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 15668446[PMID] |
| POLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 12565911[PMID]_16919951[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
31 annotations · validated 2019-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031422 | Abnormal morphology of the cerebellar cortex | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0001751 | Abnormal vestibular function | |
| HP:0007344 | Atrophy/Degeneration involving the spinal cord | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001260 | Dysarthria | Diagnostic criterion |
| HP:0002066 | Gait ataxia | |
| HP:0001265 | Hyporeflexia | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0000597 | Ophthalmoparesis | Diagnostic criterion |
| HP:0002403 | Positive Romberg sign | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003434 | Sensory ataxic neuropathy | Diagnostic criterion |
| HP:0025331 | Upgaze palsy | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0000518 | Cataract | |
| HP:0100543 | Cognitive impairment | |
| HP:0000716 | Depression | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002578 | Gastroparesis | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0002354 | Memory impairment | |
| HP:0002076 | Migraine | |
| HP:0001250 | Seizure | |
Annotation source: 15477547[PMID]_11571332[PMID]_9222196[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70595
- This record as JSON: /data/d/70595.json