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| Term | rigid spine muscular dystrophy 1 | ID (Ontology) | DOID:0110633 (Human 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. | ||
| Also Known As | "classic MmD" ; "classic multiminicore disease" ; "classic multiminicore myopathy" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease____ bone disease | |__spinal disease_________________| physical disorder | |__congenital muscular dystrophy__| muscular dystrophy | |__congenital muscular dystrophy__| rigid spine muscular dystrophy 1 |
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| Is a |
congenital muscular dystrophy autosomal recessive disease spinal disease |
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GARD:4723 ICD10CM:G71.2 ICD10CM:G71.8 MESH:C535683 MIM:602771 ORDO:324604 ORDO:84132 ORDO:97244 |
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