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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NZV5 | Selenoprotein N |
| UniProt ID | Protein Name | Source |
|---|---|---|
| D3Z2R5 | Selenoprotein N |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002515 | Waddling gait |
| HP:0003307 | Hyperlordosis |
| HP:0001290 | Generalized hypotonia |
| HP:0003198 | Myopathy |
| HP:0001263 | Global developmental delay |
| HP:0003273 | Hip contracture |
| HP:0002093 | Respiratory insufficiency |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0002987 | Elbow flexion contracture |
| HP:0000467 | Neck muscle weakness |
