rigid spine muscular dystrophy 1 (DOID:0110633)
Alliance: disease page
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
Alt IDs: OMIM:602771, ICD10CM:G71.2, ICD10CM:G71.8, MESH:C535683, ORDO:324604, ORDO:84132, ORDO:97244
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.