ORPHA:280671
Megaconial congenital muscular dystrophy
Also known as: Congenital megaconial myopathy · Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · Congenital muscular dystrophy with mitochondrial structural abnormalities
Clinical definition (Orphanet)
A rare, genetic, skeletal muscle disease characterized by an early-onset , muscle weakness, global with , and . structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.
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?
64
64 papers have ever been published on this condition (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.
64 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).
40 in the last 10 years · high confidence · 52.2th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 7 trials are registered for congenital muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
7
trials for congenital muscular dystrophy, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CHKB).
GenCC classification: Strong.
Who's working on it?
4,637
Distinct author names in 64 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.
- 01Wang Y14 papers · 2026
Saint Louis University, Department of Biology, Saint Louis, MO, USA.
Papers in Europe PMC - 02Zhang H11 papers · 2021
Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.
Papers in Europe PMC - 03Nishino I10 papers · 2021
aej National Center of Neurology and Psychiatry , Department of Neuromuscular Research , National Institute of Neuroscience , Tokyo , Japan.
Papers in Europe PMC - 04Zhang Y10 papers · 2021
The Chinese University of Hong Kong, Department of Anaesthesia and Intensive Care, Hong Kong, China.
Papers in Europe PMC - 05Liu X8 papers · 2021
University of Colorado at Boulder, Department of Biochemistry, Boulder, CO, USA.
Papers in Europe PMC - 06Zhang L8 papers · 2021
Huazhong University of Science and Technology, College of Life Science and Technology, Key Laboratory of Molecular Biophysics of Ministry of Education,Wuhan, Hubei, China.
Papers in Europe PMC - 07Chen Y7 papers · 2021
Research Institute in Oncology and Hematology, CancerCare Manitoba, Winnipeg, Manitoba, Canada.
Papers in Europe PMC - 08Li M7 papers · 2021
Jinan University, College of Life Science and Technology, Department of Biology, Guangzhou, China.
Papers in Europe PMC - 09Liu Y7 papers · 2021
Tsinghua Unversity, School of Life Sciences, Beijing, China.
Papers in Europe PMC - 10Wang C7 papers · 2021
Huazhong University of Science and Technology, College of Life Science and Technology, Hubei Bioinformatics and Molecular Imaging Key Laboratory, Key Laboratory of Molecular Biophysics of Ministry of Education, Wuhan, Hubei, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
7 interventional trials matched congenital muscular dystrophy, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
Observational and natural-history studies
1 observational study matches 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
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.
"Megaconial congenital muscular dystrophy" OR "Congenital megaconial myopathy" OR "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" OR "Congenital muscular dystrophy with mitochondrial structural abnormalities" OR "megaconial type congenital muscular dystrophy"
MeSH descriptor terms unioned into the query: Muscular Dystrophy, Congenital, Megaconial Type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Megaconial congenital muscular dystrophy" OR "Congenital megaconial myopathy" OR "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" OR "Congenital muscular dystrophy with mitochondrial structural abnormalities" OR "megaconial type congenital muscular dystrophy" OR "Muscular Dystrophy, Congenital, Megaconial Type" OR "CHKB"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C566527 OMIM:602541 UMLS:C1865233
Query health: ok — strategies attempted: phrase, mesh, 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