Term Name:	rigid spine muscular dystrophy 1
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.
Ontology:	Human Disease [DOID:0110633]   ( DOID:0110633 )