Search Ontology:
Human Disease

rigid spine muscular dystrophy 1

Term ID
DOID:0110633
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models