| Metadata | |
|---|---|
| ID | DOID:0110633 |
| Name | rigid spine muscular dystrophy 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/11528383, https://www.ncbi.nlm.nih.gov/pubmed/12192640, https://www.ncbi.nlm.nih.gov/pubmed/15122708 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
classic MmD [EXACT] classic multiminicore disease [EXACT] classic multiminicore myopathy [EXACT] congenital merosin-positive muscular dystrophy with early spine rigidity [EXACT] desmin-related myopathy with Mallory bodies [EXACT] desmin-related myopathy with Mallory body-like inclusions [EXACT] early-onset desmin-related myopathy [EXACT] Eichsfeld type congenital muscular dystrophy [EXACT] MDRS1 [EXACT] rigid spine syndrome [EXACT] RSMD1 [EXACT] RSS [EXACT] SEPN1-related myopathy [EXACT] severe classic form minicore myopathy [EXACT] severe classic form multicore myopathy [EXACT] severe classic form multiminicore disease [EXACT] |
| Parent Relationships |
is_a spinal disease |