rigid spine muscular dystrophy 1

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 r

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.

Signs and symptoms

• Increased endomysial connective tissue
• Type 1 muscle fiber predominance
• Neck flexor weakness
• Centrally nucleated skeletal muscle fibers
• Reduced vital capacity
• Increased variability in muscle fiber diameter
• Decreased body weight
• Short stature
• Failure to thrive
• Scoliosis

Also known as: Eichsfeld type congenital muscular dystrophy; MDRS1; RSMD1; RSS; SEPN1-related myopathy