DeCure for Emery-Dreifuss muscular dystrophy 7, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Emery-Dreifuss muscular dystrophy 7, autosomal dominant — screening already-approved drugs against its 1-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 7, autosomal dominant maps to a 1-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 7, 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.
What the evidence adds up to
Nine patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to lamin A/C gene mutations all showed a characteristic pattern on leg MRI: 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 was not seen in four patients with the X-linked form or in three patients with an Emery-Dreifuss-like phenotype but no detectable mutation in either the emerin or lamin A/C gene. The authors concluded that muscle MRI can help distinguish genetic forms of the disease.
One 1989 family study found linkage between the disorder and a probe at Xq28, suggesting that X-linked Emery-Dreifuss and X-linked muscular dystrophy with contractures represent the phenotypic spectrum of the same mutated gene rather than separate entities. A 1994 report described one family with a rare autosomal dominant variant and another with X-linked recessive inheritance showing unusual intrafamilial variability; it also noted that rigid spine syndrome and Emery-Dreifuss are not distinct disorders. A 1986 report presented two cases of autosomal dominant humeroperoneal myopathy and postulated separate genetic disorders with similar phenotypic expression.
Cardiac involvement is a consistent feature. A 2002 case report described a 32-year-old woman with no family history who had humeroperoneal atrophy, neck and elbow contractures, sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy; a cardiac biopsy showed adipose tissue infiltration and deposition of antihuman IgG. Another 2002 paper on anaesthetic management noted that cardiomyopathy and arrhythmias can lead to sudden death in these patients.
What is still missing is a systematic, prospective study that correlates specific lamin A/C mutations with cardiac and muscle outcomes over time. No trial has tested any intervention to slow progression or prevent arrhythmias. Patient stratification by genotype and cardiac phenotype is not yet standardised, and funding for natural history studies or drug repurposing screens in this rare disease remains scarce.
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.
Emery‐Dreifuss syndrome and X‐linked muscular dystrophy with contractures: evidence for homogeneity
AbstractWe report on a family in which individuals have clinical features of both Emery-Dreifuss syndrome (EMD) and X-linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.
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.
Cardiomyopathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy
AbstractA 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy. The biopsy specimen of skeletal muscle showed dystrophic character; a cardiac endomyocardial biopsy specimen showed adipose tissue infiltration and deposition of antihuman IgG. Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. The patient had no familial background of the disease. This patient might have a sporadic inheritance pattern with severe cardiac involvement.
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.
