rigid spine muscular dystrophy 1

Summary

DOID:0110633 - rigid spine muscular dystrophy 1

Disease Ontology 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.

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, RSMD1, RSS, SEPN1-related myopathy, severe classic form minicore myopathy, severe classic form multicore myopathy, severe classic form multiminicore disease, MDRS1, rigid spine syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: selenon

MIM:

MIM:602771 - rigid spine muscular dystrophy 1; rsmd1

MIM:602771 - rigid spine muscular dystrophy 1; rsmd1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a), spinal disease (is_a)