neuronopathy, distal hereditary motor, autosomal dominant 8
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.
MONDO:0015362
neuronopathy, distal hereditary motor, autosomal dominant
is_a
HMN8
related
autosomal dominant benign distal spinal muscular atrophy
exact
autosomal dominant congenital benign spinal muscular atrophy
exact
congenital benign spinal muscular atrophy with contractures
exact
congenital nonprogressive spinal muscular atrophy
exact
neuronopathy, distal hereditary motor, type VIII
related