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Metadata
ID DOID:0110633
Name rigid spine muscular dystrophy 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/11528383, https://www.ncbi.nlm.nih.gov/pubmed/12192640, https://www.ncbi.nlm.nih.gov/pubmed/15122708
Xrefs

GARD:4723

ICD10CM:G71.2

ICD10CM:G71.8

MESH:C535683

OMIM:602771

ORDO:324604

ORDO:84132

ORDO:97244

Synonyms

classic MmD [EXACT]

classic multiminicore disease [EXACT]

classic multiminicore myopathy [EXACT]

congenital merosin-positive muscular dystrophy with early spine rigidity [EXACT]

desmin-related myopathy with Mallory bodies [EXACT]

desmin-related myopathy with Mallory body-like inclusions [EXACT]

early-onset desmin-related myopathy [EXACT]

Eichsfeld type congenital muscular dystrophy [EXACT]

MDRS1 [EXACT]

rigid spine syndrome [EXACT]

RSMD1 [EXACT]

RSS [EXACT]

SEPN1-related myopathy [EXACT]

severe classic form minicore myopathy [EXACT]

severe classic form multicore myopathy [EXACT]

severe classic form multiminicore disease [EXACT]

Parent Relationships

is_a spinal disease

is_a autosomal recessive disease

is_a congenital muscular dystrophy

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