Rigid spine muscular dystrophy 1

Rigid spine muscular dystrophy 1

Definition

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.

Also known as MDRS1, minicore myopathy, severe classic form, multicore myopathy, severe classic form, multiminicore disease, severe classic form, muscular dystrophy, congenital, Eichsfeld type, muscular dystrophy, congenital, merosin-positive, with early spine rigidity, muscular dystrophy, rigid spine, 1, myopathy, SEPN1-related, rigid spine muscular dystrophy 1, rigid spine muscular dystrophy type 1, rigid spine syndrome caused by mutation in SELENON, RSMD1, RSS, SELENON rigid spine syndrome — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0