OBO ID: DOID:0110633
Term Name: rigid spine muscular dystrophy 1 Search Ontology:
Synonyms:
  • classic MmD
  • classic multiminicore disease
  • classic multiminicore myopathy
  • congenital merosin-positive muscular dystrophy with early spine rigidity
  • desmin-related myopathy with Mallory bodies
  • desmin-related myopathy with Mallory body-like inclusions
  • early-onset desmin-related myopathy
  • Eichsfeld type congenital muscular dystrophy
  • MDRS1
  • rigid spine syndrome
  • RSMD1
  • RSS
  • SEPN1-related myopathy
  • severe classic form minicore myopathy
  • severe classic form multicore myopathy
  • severe classic form multiminicore disease
Definition: A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (3)
References:
Ontology: Human Disease   (DOID:0110633)
OTHER rigid spine muscular dystrophy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SELENON Muscular dystrophy, rigid spine, 1 602771
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None