rigid spine muscular dystrophy 1

Term ID

DOID:0110633

Synonyms

• 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
• Eichsfeld type congenital muscular dystrophy
• MDRS1
• rigid spine syndrome
• RSMD1
• RSS
• SEPN1-related myopathy
• severe classic form minicore myopathy
• severe classic form multicore myopathy
• severe classic form multiminicore disease

(all 16)

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. (3)

References

• GARD:4723
• ICD10CM:G71.2
• ICD10CM:G71.8
• MESH:C535683
• MIM:602771
• ORDO:324604
• ORDO:84132
• ORDO:97244

(all 8)

Ontology

Human Disease   ( DOID:0110633 )