DISEASES

Disease-gene associations mined from literature

Human genes for rigid spine muscular dystrophy 1

Rigid spine muscular dystrophy 1 [DOID:0110633]

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.

Synonyms:  rigid spine muscular dystrophy 1,  DOID:0110633,  Eichsfeld type congenital muscular dystrophy,  MDRS1,  RSMD1 ...