DeCure for X-linked myopathy with postural muscle atrophy
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for X-linked myopathy with postural muscle atrophy — 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 moduleX-linked myopathy with postural muscle atrophy 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 x-linked myopathy with postural muscle atrophy 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
emerin (EMD) — EMD 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 7NDY · 1.44 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The 1995 study of myotubular myopathies describes three inheritance forms: X-linked recessive, autosomal dominant, and autosomal recessive. The X-linked form is the most severe, with earlier onset and worse prognosis than the autosomal dominant form, which has a later onset and milder course; the autosomal recessive form is intermediate. These differences are quantitative rather than qualitative. Muscle biopsy and immunohistochemical staining for desmin and vimentin may help distinguish the X-linked form from the autosomal forms. At that time, the gene for the X-linked form was mapped to proximal Xq28, but further molecular genetic studies were needed to confirm genetic heterogeneity and improve diagnosis.
A 1999 entry from Orphanet, cited in a 2020 source, defines X-linked myopathy with postural muscle atrophy as a rare progressive muscular dystrophy with adult onset. Clinical features include shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles, and generalised hypertrophy. Neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency appear later in the disease course.
A 2019 review of hereditary myopathy notes that the group is genetically and phenotypically heterogeneous, with muscle atrophy and weakness as main manifestations. It states that improved understanding of molecular mechanisms has made classification more accurate for clinical diagnosis, but does not report any specific treatment or drug for X-linked myopathy with postural muscle atrophy.
No clinical trial data, survival figures, or response rates for any drug are reported in these abstracts. What is missing is any funded trial designed for this specific myopathy, any validated patient stratification by molecular subtype, and any evidence that a repurposed drug has been tested in patients.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1995 · 128 citations · open access
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
AbstractClinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form mostly has a later onset and milder course than the X linked form, and the autosomal recessive form is intermediate in both respects. These differences are, however, quantitative rather than qualitative. Muscle biopsy studies of family members are useful in some cases, and immunohistochemical staining of desmin and vimentin may help distinguish between the X linked and autosomal forms. Determining the mode of inheritance and prognosis in individual families, especially those with a single male patient, still poses a problem. Current molecular genetic results indicate that the gene for the X linked form is located in the proximal Xq28 region. Further molecular genetic studies are needed to examine the existence of genetic heterogeneity in myotubular myopathy and to facilitate diagnosis.
Frontiers in Immunology · 2025 · 2 citations · open access
Anti-HMGCR myopathy: a first case report from North Africa and literature insights
AbstractAnti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented case of severe, treatment-resistant HMGCR-myopathy in a Tunisian and North African patient. A 43-year-old man with no significant medical history experienced progressive muscle weakness over one year, leading to difficulty walking. Examination revealed pronounced proximal muscle weakness, particularly in the lower limbs, with significant quadriceps atrophy. Laboratory results indicated elevated Creatine Kinase (CK) levels at 10000 UI/l and Lactate dehydrogenase (LDH) at 400 UI/l. Electromyography confirmed myogenic damage, and muscle biopsy revealed extensive muscle necrosis and regeneration with moderate inflammatory infiltrates. Screening for anti-HMGCR antibodies was positive. Initial treatment with high-dose prednisone showed a good response but led to flares upon tapering. Subsequent treatment with methotrexate, azathioprine, and rituximab resulted in partial clinical and biological improvement. This case underscores the challenges in diagnosing and managing anti-HMGCR myopathy due to limited awareness and access to testing.
AbstractOpe n Pe e r Re v ie w on Qe ios Ope n Pe e r Re v ie w on Qe ios X-linked myopathy with postural muscle atrophy INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.X-linked myopathy with postural muscle atrophy.ORPHA:178461 X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy.Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy.T ypically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
The molecular etiology, diagnosis, and treatment of hereditary myopathy: a review
AbstractHereditary myopathy is a large group of hereditary disease that mainly manifests as muscle atrophy and weakness, with strong genetic and phenotypic heterogeneity. In recent years, with greater understanding of its molecular basis, the classification of hereditary myopathy has become more accurate serving as a significant guidance for clinical diagnosis. This article reviews the clinical features, molecular mechanisms, accurate diagnostic strategies, and treatment of hereditary myopathy.
Key words:
Hereditary myopathy; Clinical features; Molecular mechanisms; Diagnosis; Treatment
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.
