ORPHA:70595
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Also known as: SANDO
Publications
3,449
Trials
0
Interventional, condition-specific
Researchers
1,516
Distinct authors in sample
Gene link
POLG
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disease characterized by adult onset of the triad of sensory ataxic , dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include , , and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011835
- OMIM:607459
- OMIM:613832
- UMLS:C1843851
Additional Mondo synonyms (8)
EPM5 · PME type 5 · PRICKLE2 progressive myoclonic epilepsy · epilepsy, progressive myoclonic, type 5 · mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) · progressive myoclonic epilepsy caused by mutation in PRICKLE2 · progressive myoclonus epilepsy type 5 · sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — POLG
- LiteraturePresent
3,449 matched papers (1,582 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (POLG).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3,449
3,449 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,449 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,582 in the last 10 years · low confidence
Phrase hits: 3,449 · MeSH hits: 0
Who's working on it?
1,516
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sando S19 papers · 2026
Department of Chemistry and Biotechnology, Graduate School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.
Papers in Europe PMC - 02Sando MM18 papers · 2026
African Academy for Public Health (AAPH), Dar es Salaam, Tanzania.
Papers in Europe PMC - 03Fawzi WW12 papers · 2026
Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Papers in Europe PMC - 04Sando D12 papers · 2026
School of Materials Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.
Papers in Europe PMC - 05Sando E10 papers · 2026
Department of General Internal Medicine and Clinical Infectious Diseases, Fukushima Medical University, Fukushima, Japan; Department of General Internal Medicine and Infectious Diseases, Kita-Fukushima Medical Centre, Fukushima, Japan. Electronic address: e-sando@fmu.ac.jp.
Papers in Europe PMC - 06Sando T10 papers · 2026
School of Engineering, University of North Florida, Jacksonville, Florida.
Papers in Europe PMC - 07Shinde S10 papers · 2026
Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Papers in Europe PMC - 08Fawzi W9 papers · 2026
Department of Global Health and Population, Harvard T. H. Chan School of Public Health, Boston, Massachusetts, USA.
Papers in Europe PMC - 09Morimoto J9 papers · 2026
Department of Chemistry and Biotechnology, Graduate School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.
Papers in Europe PMC - 10Sando RC9 papers · 2026
Department of Pharmacology, Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37240.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05554835·RECRUITING·Global Registry and Natural History Study for Mitochondrial Disorders
Conditions: Mitochondrial Diseases · Kearns-Sayre Syndrome · MIDD · SANDO·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" OR "SANDO" OR "PME type 5" OR "PRICKLE2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 5" OR "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" OR "progressive myoclonic epilepsy caused by mutation in PRICKLE2" OR "progressive myoclonus epilepsy type 5" OR "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" OR "SANDO" OR "PME type 5" OR "PRICKLE2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 5" OR "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" OR "progressive myoclonic epilepsy caused by mutation in PRICKLE2" OR "progressive myoclonus epilepsy type 5" OR "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" OR "POLG"
Recall-expansion terms: POLG
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EPM5
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "PME type 5" also appears on ORPHA:402082
- "progressive myoclonus epilepsy type 5" also appears on ORPHA:402082
Ingested 2026-07-27T01:38:01.105Z