rigid spine muscular dystrophy 1
An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.
MONDO:0018948
multiminicore myopathy
is_a
MONDO:0019951
rigid spine syndrome
is_a
MONDO:0100100
SELENON-related myopathy
is_a
MDRS1
exact
RSMD1
exact
RSS
exact
SELENON rigid spine syndrome
exact
classic MmD
broad
classic multiminicore disease
broad
classic multiminicore myopathy
broad
minicore myopathy, severe classic form
exact
multicore myopathy, severe classic form
exact
multiminicore disease, severe classic form
exact
muscular dystrophy, congenital, Eichsfeld type
exact
muscular dystrophy, congenital, merosin-positive, with early spine rigidity
exact
muscular dystrophy, rigid spine, 1
exact
myopathy, SEPN1-related
exact
rigid spine muscular dystrophy 1
exact
rigid spine muscular dystrophy type 1
exact
rigid spine syndrome
broad
rigid spine syndrome caused by mutation in SELENON
exact