neuronopathy, distal hereditary motor, autosomal dominant 8

Rare Disease

MONDO:0010839

Also Known As

autosomal dominant benign distal spinal muscular atrophyautosomal dominant congenital benign spinal muscular atrophycongenital benign spinal muscular atrophy with contracturescongenital nonprogressive spinal muscular atrophyHMN8neuronopathy, distal hereditary motor, type 8neuronopathy, distal hereditary motor, type VIIIneuropathy, distal hereditary motor, type 8spinal muscular atrophy, congenital benign, with contracturesspinal muscular atrophy, distal, congenital nonprogressive

Definition

Autosomal dominant congenital benign spinal muscular atrophy is 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 dysfunction are usually also associated.