| Symbol
| RSMD1
|
| Location
| 1p36-p35
|
| Name
|
rigid spine muscular dystrophy 1 |
| Other name(s)
|
muscular dystrophy, congenital, merosine-positive, with early spine rigidity
. muscular dystrophy, congenital, Eichsfeld type |
| Corresponding gene
|
SEPN1
|
| Other symbol(s)
| RCMD, MDRS1
|
| Main clinical features
|
congenital muscular dystrophy , early onset, with early rigidity of the spine, characterized by marked limitation in flexion of the whole dorsolumbar and cervical spine, owing to contracture of the spinal extensors and leading to loss of movement of the spine and the thoracic cage with restrictive respiratory syndrome, and at the biopsy, Mallory body-like inclusions in muscle fibers composed of granular material and 2 types of filaments |
| Genetic determination
| autosomal recessive |
| Related entries
| . including multiminicore disease and desmin-related myopathy with Mallory bodies
|
| Function/system disorder
| neuromuscular |
| Type
| disease
|