{
  "abstract": "ADSS1 myopathy is an ultra-rare autosomal recessive neuromuscular disorder caused by biallelic pathogenic variants in ADSS1 encoding the striated muscle isozyme of adenylosuccinate synthase involved in purine metabolism. Despite advances in clinical, genetic and mechanistic understanding, the condition remains inconsistently represented across clinical, genomic and registry systems. It is variably labelled as ADSSL1-related distal myopathy, nemaline myopathy, or more recently, a metabolic myopathy reflecting an inborn error of metabolism. These inconsistencies have practical consequences. Gene nomenclature and annotation drift introduces avoidable errors in variant interpretation, panel design and data integration, while imprecise disease classification based on early observations reduces clinical ascertainment of new cases, degrades longitudinal natural history studies, and delays clinical trial readiness. At the level of international coding systems, ADSS1 myopathy is misclassified under legacy terminology in SNOMED CT and Orphanet and is not independently represented in ICD-11. This position statement argues for harmonization of both gene and variant nomenclature and disease classification. We promote adoption of ADSS1 (HGNC:20093) as the canonical gene symbol, adenylosuccinate synthase 1 (ADSS1) as the canonical protein name, with ADSSL1 retained as a historical synonym, and PURA1 recognized as a protein alias. We further propose classification of ADSS1 myopathy as a metabolic myopathy caused by an inborn error of purine metabolism (more concisely, a metabolic myopathy), with distal and nemaline descriptors retained as histopathological modifiers. Standardization is a low-cost, high-impact intervention that will improve diagnostic accuracy, enable integration of multi-omics datasets, strengthen registries and accelerate therapeutic development for this globally dispersed ultra-rare disease.\n\nClinical trial number: Not applicable.",
  "abstract_shown": true,
  "affiliations": [
    "Inherited and Acquired Myopathies Program, Institute of Health and Sport, Victoria University, Melbourne, VIC Australia",
    "Melbourne Medical School – Western Health, Department of Medicine, University of Melbourne, Melbourne, VIC Australia",
    "Cure ADSSL1, Glendale, CA USA",
    "Purine and Pyrimidine Metabolism Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA",
    "Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA USA",
    "Faculty of Medicine, Department of Pediatric Metabolism, Ankara University, Ankara, Türkiye",
    "Ankara University Rare Diseases Application and Research Center, Ankara, Türkiye",
    "Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA USA"
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Emma Rybalka"
    },
    {
      "affs": [
        3
      ],
      "name": "Oleg A. Shchelochkov"
    },
    {
      "affs": [
        4,
        5,
        6
      ],
      "name": "Merve Koç Yekedüz"
    },
    {
      "affs": [
        4
      ],
      "name": "Jaymin Upadhyay"
    },
    {
      "affs": [
        7
      ],
      "name": "Alan H. Beggs"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/72jves8g47wsb.bib",
  "cited_by": 0,
  "doi": "10.1186/s13023-026-04535-8",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13732957/",
  "id": "72jves8g47wsb",
  "issns": [
    "1750-1172"
  ],
  "landing_url": "https://doi.org/10.1186/s13023-026-04535-8",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Position Statement"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7172507811",
  "pdf_url": null,
  "pmcid": "PMC13732957",
  "pmid": "42983737",
  "published": "2026-08-05",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/72jves8g47wsb.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:22:50Z",
      "native_id": "PMC13732957",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s13023-026-04535-8"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Harmonizing gene nomenclature and disease classification for ADSS1 myopathy",
  "title_text": "Harmonizing gene nomenclature and disease classification for ADSS1 myopathy",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:22:50Z",
  "url": "https://research.draconitic.com/paper/72jves8g47wsb",
  "venue": "Orphanet Journal of Rare Diseases",
  "versions": []
}