DeCure for Neurogenic scapuloperoneal syndrome, Kaeser type
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for neurogenic scapuloperoneal syndrome, Kaeser type — 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 moduleNeurogenic scapuloperoneal syndrome, Kaeser type 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 neurogenic scapuloperoneal syndrome, kaeser type 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
In a 1996 study of a single large family with 14 affected members out of 44 examined, the scapuloperoneal syndrome was found to be predominantly myopathic by physiological and histological analysis, and genetic linkage to chromosome 12 was established, distinguishing it from other known neuromuscular disease loci. The authors proposed that muscle fibres containing hyaline desmin-positive cytoplasmic inclusions with focal myopathic changes might be a disease-specific morphological marker. No drug or treatment was tested.
A 2008 report on three cases of Kaeser’s scapulo-peroneal muscular atrophy, including the first complete autopsy, found that spinal cord motor neuron numbers were grossly normal, but the anterior horn neuropil showed axonal swellings, abnormal lipofuscin accumulations, and intra-axonal corpora amylacea. Muscle changes were partly neurogenic atrophy and partly primary myopathy, with neutral fat accumulation mainly in type I fibres. No intervention was assessed.
A 1988 study of two adult-onset sporadic cases used extensive nerve morphometry and multiple muscle biopsies to confirm a myopathic process, defining adult onset scapuloperoneal myopathy as a distinct entity. No treatment was evaluated.
A 2015 case report described a patient with Stark–Kaeser type scapuloperoneal syndrome presenting mild proximal weakness and hypotrophy, severe foot paresis, walking dysfunction, and a slowly progressive course. The authors reviewed current views on aetiology and pathogenesis but reported no therapeutic trial.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractScapuloperoneal syndromes are characterized by their distribution of muscle weakness and wasting. The reported pattern of inheritance has been variable. Both neurogenic and myopathic forms of autosomally dominantly inherited scapuloperoneal syndrome have been described. It has been suggested that these are variants of other neuromuscular diseases. We examined 44 members from a family with 14 members affected with a scapuloperoneal syndrome. Physiological and histological analysis implied that this condition is predominantly myopathic. Linkage analysis was done to confirm the genetic etiology of the disease in this family and to evaluate the possibility that it is a allelic variant of other neuromuscular diseases. Genetic analysis demonstrated linkage of the disease to chromosome 12, which makes it genetically distinct from other loci known to cause neuromuscular disease. Muscle fibers with hyaline desmin-containing cytoplasmic inclusions in combination with focal myopathic changes may be a disease-specific morphological marker of the disease.
AbstractMorphological findings of 3 cases of Kaeser's scapulo-peroneal muscular atrophy are described. 1 of them is the first complete autopsy report on this disease. While the number of motor neurons in the spinal cord was grossly normal, the neuropil of the anterior horn exhibited axonal swellings, accumulations of possibly pathological lipofuscin and intra-axonal corpora amylacea. In the muscles, changes were partly those of neurogenic atrophy, partly of a primary myopathy. There was also an accumulation of neutral fat in the muscle fibres, mainly of those of type I.
Journal of Neurology Neurosurgery & Psychiatry · 1988 · 5 citations · open access
Adult onset scapuloperoneal myopathy: diagnostic value of nerve morphometry and multiple muscle biopsies.
AbstractIn the scapuloperoneal syndrome, differentiation between neurogenic and myopathic processes may be difficult despite electromyography and muscle biopsy. Extensive analysis, including morphometry, was conducted on multiple nerve and muscle biopsies from two adult onset, sporadic cases with the syndrome. These studies confirm a myopathic process and further define the entity of adult onset scapuloperoneal myopathy.
Bulletin of Siberian Medicine · 2015 · 1 citations · open access
THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME
AbstractWe present a rare case of Stark–Kaeser type scapuloperoneal syndrome type with mild weakness and hypotrophy in proximal limb, with rough paresis of feet, walking dysfunction and slowly-progressive course. The article briefly describes current views on the etiology and pathogenesis of this disease. The case is of interest to physicians of various specialties for the differential diagnosis of inherited neuromuscular disorders.
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.
