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Ullrich congenital muscular dystrophy

Ullrich Congenital Muscular Dystrophy Deep Research Fallback

⚠️ Fallback MONDO:0000355

Ullrich Congenital Muscular Dystrophy Deep Research Fallback

Provider Attempts

  • 2026-05-09T14:29Z: timeout 240s just research-disorder falcon Ullrich_Congenital_Muscular_Dystrophy timed out with exit code 124 after the provider command was terminated by timeout.
  • 2026-05-09T14:33Z: timeout 240s just research-disorder openai Ullrich_Congenital_Muscular_Dystrophy timed out with exit code 124 after the provider command was terminated by timeout.

No provider-generated research artifact was available to integrate. Curation therefore proceeded from generated structured Orphanet evidence and fetched PubMed caches, without hand-editing any references_cache/*.md files.

Evidence Scope Used For Curation

  • ORPHA:75840 structured record for the definition, MONDO exact mapping, inheritance modes, prevalence, neonatal/infancy onset, COL12A1 and COL6A1/ COL6A2/COL6A3 gene assertions, and HPO phenotype-frequency rows.
  • PMID:24938411 for the core UCMD clinicopathological pattern, collagen VI ECM pathomechanism, natural-history features, muscle pathology, and supportive treatment framework.
  • PMID:11992252 for COL6A3 human variant evidence and collagen VI deficiency in muscle and fibroblasts.
  • PMID:15689448 for COL6A1/COL6A2/COL6A3 sequencing evidence, dominant and recessive inheritance, and molecular diagnostic support.
  • PMID:21280092 for large COL6A1/COL6A2-region deletion mechanisms, recessive loss-of-function disease, and collagen VI absence in patient fibroblasts.
  • PMID:24334604 for COL12A1-related muscle/connective-tissue overlap disease and extracellular-matrix force-transduction evidence.
  • PMID:21078917 for congenital muscular dystrophy standard-of-care guidance, including multidisciplinary supportive care, physical therapy, respiratory monitoring, and orthopedic/rehabilitation management.
  • PMID:24271325 for human collagen VI-related myopathy pulmonary natural history and the timing of non-invasive ventilation in UCMD.

Curation Conclusions

The curated model treats UCMD as the Orphanet/MONDO root disease with gene-defined COL6A1, COL6A2, COL6A3, and COL12A1 subtype mappings. Germline collagen VI or collagen XII defects disrupt skeletal-muscle extracellular matrix structure and mechanics, leading to collagen matrix deficiency, myofiber connective-tissue pathology, joint contractures with distal hypermobility, generalized weakness, progressive scoliosis, elevated creatine kinase, and childhood respiratory insufficiency. Current care remains supportive, with multidisciplinary management, physical therapy/orthopedic rehabilitation, and non-invasive ventilation for respiratory decline.