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rigid spine muscular dystrophy 1
Summary
- Synonym
-
- Eichsfeld type congenital muscular dystrophy
- MDRS1
- RSMD1
- RSS
- SEPN1-related myopathy
- 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
- rigid spine syndrome
- 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.
- Super Class
- autosomal recessive disease congenital muscular dystrophy spinal disease
External Links
- Disease Ontology
- DOID:0110633
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 952 | CD38 | CD38 molecule | |
| 1120 | CHKB | choline kinase beta | |
| 1272 | CNTN1 | contactin 1 | |
| 2218 | FKTN | fukutin | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3098 | HK1 | hexokinase 1 | |
| 4534 | MTM1 | myotubularin 1 |
Related Glycoprotein
