Autosomal dominant congenital benign spinal muscular atrophy
Engelsk navn: Autosomal dominant congenital benign spinal muscular atrophy
Engelske synonym: Autosomal dominant benign distal spinal muscular atrophy,Congenital benign spinal muscular atrophy with contractures,Congenital nonprogressive spinal muscular atrophy
Definisjon
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Fra Orphanet
ORPHA: 1216
Klassifiseringsnivå: Disorder
ICD-10: G12.1
