ORPHA:370968
Congenital muscular dystrophy with intellectual disability
Also known as: CMD with intellectual disability · CMD-MR
Publications
32
36th percentile
Trials
0
Interventional, condition-specific
Researchers
316
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, muscular due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal , oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
How rare: Not yet documented
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018278
- UMLS:C5190846
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
32 matched papers (20 in last 10 years) Source
- Phenotype characterisedPresent
43 HPO annotations (e.g. Myopia; Abnormality of the nervous system; Cerebellar vermis hypoplasia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 7 for broader category congenital muscular dystrophy
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
43
Associated phenotypes · MONDO:0018278
- Myopia
- Abnormality of the nervous system
- Cerebellar vermis hypoplasia
- Cerebellar hypoplasia
- Loss of ambulation
Showing 5 of 43 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
32
32 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=3967) is 59.
32 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
20 in the last 10 years · high confidence · 36th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
316
Distinct author names in 32 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.
- 01Campbell KP5 papers · 2025
Howard Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics and Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
Papers in Europe PMC - 02Muntoni F4 papers · 2018
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK.
Papers in Europe PMC - 03Xiong H4 papers · 2026
Department of Pediatrics, Peking University First Hospital, No.1, Xi'anmen Street, Beijing, Xicheng District 100034, China. Electronic address: xh_bjbj@163.com.
Papers in Europe PMC - 04Bertini E3 papers · 2018
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Papers in Europe PMC - 05Brown SC3 papers · 2012
Department of Veterinary Basic Science, Royal Veterinary College, Royal College Street, Camden Town NW1 0TU, UK.
Papers in Europe PMC - 06Feng L3 papers · 2013Papers in Europe PMC
- 07Ge L3 papers · 2026
Department of Genetics, Yale School of Medicine, New Haven, CT, USA; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Papers in Europe PMC - 08Moore SA3 papers · 2025
Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Papers in Europe PMC - 09Torelli S3 papers · 2013Papers in Europe PMC
- 10Angelini C2 papers · 2018
Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital muscular dystrophy
7
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05982119·RECRUITING·Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
Conditions: Duchenne Muscular Dystrophy · Fascioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy 1 · Charcot-Marie-Tooth·Matched via name phrase
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Congenital muscular dystrophy with intellectual disability — check Associations / patient organisations on that page.
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.
"Congenital muscular dystrophy with intellectual disability" OR "CMD with intellectual disability" OR "CMD-MR"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital muscular dystrophy with intellectual disability" OR "CMD with intellectual disability" OR "CMD-MR"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital muscular dystrophy"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T14:59:09.075Z