DeCure for Congenital muscular dystrophy with intellectual disability and severe epilepsy
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for congenital muscular dystrophy with intellectual disability and severe epilepsy — 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 moduleCongenital muscular dystrophy with intellectual disability and severe epilepsy 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 congenital muscular dystrophy with intellectual disability and severe epilepsy 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
A 2008 case report describes a Mediterranean boy with congenital muscular dystrophy, mild intellectual impairment, and seizures; EEG showed generalised and localised paroxysmal activity, CT showed low-density periventricular areas, and ophthalmoplegia was present. A 2016 case report describes a four-year-old girl with complex partial seizures controlled by oxcarbazepine, delayed milestones, irritability, and progressive muscular weakness since infancy with difficulty sucking and breathing. Her development quotient was 46, creatinine kinase was high at 314 IU/L, and MRI showed polymicrogyria, white matter changes, and subcortical cerebellar cysts. The authors note that in Japan Fukuyama disease is fairly common, second only to Duchenne muscular dystrophy, but a milder form like this case is rare.
A 1994 paper reports generalised convulsive epilepsy in a boy with Duchenne muscular dystrophy and dystrophin gene deletion, and absence epilepsy in a boy with limb girdle muscular dystrophy and partial calpain deficiency; both had normal brain MRI. The paper reviews that partial or generalised epilepsy has also been reported in Duchenne/Becker dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with laminin alpha2 deficiency, and limb girdle muscular dystrophy with partial calpain deficiency, in addition to Fukuyama congenital muscular dystrophy.
No drug is tested or proposed for this condition in these abstracts. The 2016 case report states that treatment is mainly supportive with physiotherapy, antiepileptic drugs, and genetic counselling. What is missing is any controlled trial of a specific drug, any biomarker that predicts response, and any patient stratification beyond broad clinical and genetic categories.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
European Neurology · 2008 · 13 citations
Congenital Muscular Dystrophy with Central Nervous System Involvement: Case Report
AbstractA case of a mediterranean boy with congenital muscular dystrophy (CMD) and central nervous system (CNS) involvement with mild intellectual impairment and seizures is reported. Muscular dystrophy involved both skeletal and mimic muscles, and histological findings were consistent with a congenital dystrophy. EEG recordings showed generalized and localized paroxysmal activities. CT scan demonstrated low-density periventricular areas. Ophthalmoplegia was also observed. A literature review disclosed that in some western cases of CMD plus CNS involvement, cranial muscles other than mimic muscles may be involved.
Bengal Journal of Psychiatry · 2016 · 0 citations · open access
A case of Polymicrogyria with Alpha Dystroglycanopathy presented with milder form with intellectual disability and partial seizure
AbstractBackground : Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent in early infancy or at birth. Muscular dystrophies are mostly genetic and a degenerative disease primarily affects voluntary muscles.Introduction : Alpha dystroglycanopathies both phenotypically and genetically are heterogeneous group of disorders and a subgroup of these patients has characteristic brain imaging findings.Material and methods: The case vignette shows a four year old girl presented in the OPD with history of throwing tantrums, delayed developmental milestones, irritability and anger outbursts. She had a history of admission in paediatric neurology indoor with complex partial seizures controlled by tab oxcarbazepine. She was born full term of non-consanguineous marriage by LUCS. There was progressive muscular weakness since early infancy with difficulty in sucking and breathing. No developmental regression was noticed.Results : Her development quotient was found to be 46, plasma ammonia and lactate levels were normal, creatinine kinase was high (314 IU/L). MRI of brain revealed polymicrogyria, white matter changes and subcortical cerebellar cysts. The pattern recognition of MR imaging features may serve as a clue to the diagnosis of alpha dystroglycanopathy although definite diagnosis could be obtained only by muscle biopsy and genetic testing.Conclusion : In Japan, Fukuyama disease is fairly common, second to Duchenne muscular dystrophy but milder form lie this case is rare. The mutation in FKTN gene which gives instructions for making a protein called fukutin, which chemically modify a protein alpha-dystroglycan. Highindex of suspicion and early diagnosis is required to initiate prompt therapy which is mainly supportive with rigorous physiotherapy, antiepileptic drugs, parental and genetic counseling.
The American Journal of Human Genetics · 1994 · 0 citations
Identification of a 1q32.3-q42.1 duplication using chromosome microdissection generated painting probes
AbstractMuscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy and congenital brain anomalies, including cobblestone complex and other neuronal migration defects. We report generalized convulsive epilepsy in a boy with normal brain magnetic resonance imaging and Duchenne muscular dystrophy with deletion of dystrophin gene, and we report absence epilepsy with normal brain magnetic resonance imaging in another boy with limb girdle muscular dystrophy with partial calpain deficiency. We, therefore, review coexisting muscular dystrophies and epilepsy in children. In addition to Fukuyama congenital muscular dystrophy, partial or generalized epilepsy has also been reported in the following types of muscular dystrophies, including Duchenne/Becker dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with partial and complete deficiency of laminin alpha2 (merosin) chain, and limb girdle muscular dystrophy with partial calpain deficiency.
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.
