DeCure for Emery-Dreifuss muscular dystrophy 4, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Emery-Dreifuss muscular dystrophy 4, autosomal dominant — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleEmery-Dreifuss muscular dystrophy 4, autosomal dominant maps to a 3-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for emery-dreifuss muscular dystrophy 4, autosomal dominant is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
spectrin repeat containing nuclear envelope protein 1 (SYNE1) — SYNE1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet pgedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6R15 · 1.82 Å · ligand TRIETHYLENE GLYCOL (PGE). Experimental structure, not a prediction.
What the evidence adds up to
Emery-Dreifuss muscular dystrophy is a genetically heterogeneous syndrome. One family with autosomal dominant inheritance and another with X-linked recessive inheritance have been reported, alongside sporadic cases that clinically overlap with rigid spine syndrome, suggesting these are not distinct disorders. Two further cases with autosomal dominant inheritance have been described, leading to the postulate that separate genetic disorders produce similar phenotypic expression. A case of autosomal recessive inheritance has also been reported from one hospital. The core features across these reports are early contractures of the neck, elbows and ankles, humeroperoneal muscle wasting and weakness beginning in childhood, slow progression, and cardiac conduction defects.
No drug treatment is mentioned in any of these abstracts. No survival rates, response rates, or sample sizes beyond individual cases and families are given. The literature cited consists entirely of case reports and family descriptions from 1986, 1994, and 2013, with no interventional studies.
What is still missing is any clinical trial, any preclinical drug testing, any identified molecular target for the autosomal dominant form, any patient stratification by genotype, and any funding for therapeutic development in this rare disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1994 · 16 citations
Emery‐Dreifuss syndrome: Genetic and clinical varieties
AbstractTwo familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular dystrophy, another with X-linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders.
AbstractEmery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.
International Journal of Research in Medical Sciences · 2013 · 1 citations · open access
An uncommon variant of rare type of muscular dystrophy
AbstractThe muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
