DeCure for Emery-Dreifuss muscular dystrophy 2, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Emery-Dreifuss muscular dystrophy 2, 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 2, 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 2, 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
lamin A/C (LMNA) — LMNA 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6JLB · 3.205 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In nine patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to lamin A/C mutations, MRI of the leg muscles showed a characteristic pattern: the medial head of the gastrocnemius was always predominantly involved, while the lateral head was relatively spared. This pattern was most obvious in mildly affected patients and remained recognisable in advanced disease. None of the four patients with X-linked EDMD or the three with an Emery-Dreifuss-like phenotype but no detectable mutation in emerin or lamin A/C showed this pattern. The authors concluded that muscle MRI can help distinguish genetic forms of EDMD.
The syndrome itself is defined by early contractures of the neck, elbows and ankles; slowly progressive humeroperoneal muscle weakness beginning in childhood; and cardiac conduction defects. X-linked inheritance is the classic pattern, but autosomal dominant and autosomal recessive variants exist. One 1994 report described a family with autosomal dominant inheritance and another with X-linked inheritance that showed unusual intrafamilial variability. Two sporadic cases blurred the boundary with rigid spine syndrome, suggesting these are not distinct disorders. A 1986 report proposed that autosomal dominant cases represent separate genetic disorders with similar phenotypic expression.
No drug treatment is mentioned in any of these abstracts. No trial of any therapeutic agent is described. The natural history and genetic classification of EDMD2 remain the focus, with no data on interventions that slow progression, reduce contractures, or prevent cardiac complications.
What is missing: any clinical trial testing a drug for EDMD2; any evidence that a specific molecular pathway has been targeted in patients; any biomarker or stratification method beyond MRI pattern recognition; and any funding commitment to move from descriptive genetics and imaging to interventional studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neuropediatrics · 2002 · 102 citations
Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
AbstractOBJECTIVE: The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS: Nine patients with a diagnosis of EDMD2 had MRI scanning of their leg muscles. Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls. RESULTS: All patients with EDMD2 showed a characteristic involvement of the posterior calf muscles. The medial head of the gastrocnemius was always predominantly involved while the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved but was also recognisable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement. CONCLUSIONS: Our results suggest that patients with EDMD2 have a specific pattern of muscle involvement and that muscle MRI can be used, in combination with other techniques, to distinguish various genetic forms of Emery-Dreifuss muscular dystrophy.
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.
Anaesthesia and Intensive Care · 2002 · 16 citations · open access
Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy
AbstractEmery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic implications.
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.
