ORPHA:352470
DNA2-related mitochondrial DNA deletion syndrome
Also known as: Mitochondrial DNA deletion syndrome with limb-girdle weakness · Mitochondrial DNA deletion syndrome with progressive myopathy · mtDNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with progressive myopathy
Clinical definition (Orphanet)
A rare, genetic, oxidative phosphorylation disorder characterized by either late-onset with external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset presenting with decreased fetal movements, ptosis, external ophthalmoplegia, and, variably, joint contractures. Reduced content and multiple deletions of DNA is observed in muscle biopsy.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
6
6 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
6 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
4 in the last 10 years · high confidence · 20.5th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
high confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (DNA2).
GenCC classification: Strong.
Who's working on it?
45
Distinct author names in 6 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Anderson OM1 paper · 2026
Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Biomedical Research Center, Baltimore, MD, USA.
Papers in Europe PMC - 02Bielas JH1 paper · 2014Papers in Europe PMC
- 03Brosh RM Jr1 paper · 2026
Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Biomedical Research Center, Baltimore, MD, USA. broshr@mail.nih.gov.
Papers in Europe PMC - 04Burton JN1 paper · 2014Papers in Europe PMC
- 05Campderrós L1 paper · 2022
Department of Biochemistry and Molecular Biomedicine, Institut de Biomedicina Universitat de Barcelona (IBUB), CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), 08028 Barcelona, Spain.
Papers in Europe PMC - 06Cereijo R1 paper · 2022
Infectious Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Papers in Europe PMC - 07Chen J1 paper · 2025
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 08Corbacho N1 paper · 2022
Infectious Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Papers in Europe PMC - 09Couch TH1 paper · 2026
Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Biomedical Research Center, Baltimore, MD, USA.
Papers in Europe PMC - 10Cullen JN1 paper · 2024
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 below but are not added to the query string.
"DNA2-related mitochondrial DNA deletion syndrome" OR "Mitochondrial DNA deletion syndrome with limb-girdle weakness" OR "Mitochondrial DNA deletion syndrome with progressive myopathy" OR "mtDNA deletion syndrome with limb-girdle weakness" OR "mtDNA deletion syndrome with progressive myopathy" OR "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DNA2-related mitochondrial DNA deletion syndrome" OR "Mitochondrial DNA deletion syndrome with limb-girdle weakness" OR "Mitochondrial DNA deletion syndrome with progressive myopathy" OR "mtDNA deletion syndrome with limb-girdle weakness" OR "mtDNA deletion syndrome with progressive myopathy" OR "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" OR "DNA2" OR "progressive external ophthalmoplegia with mitochondrial DNA deletions" OR "mitochondrial DNA depletion syndrome" OR "mitochondrial oxidative phosphorylation disorder"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:615156 UMLS:C3554599
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus