has material basis in germline mutation in TRPV4 neuronopathy, distal hereditary motor, autosomal dominant 8 https://www.malacards.org/card/neuronopathy_distal_hereditary_motor_autosomal_dominant_8 neuronopathy, distal hereditary motor, type VIII GARD:0001474 MESH:C563981 MONDO:0010839 Orphanet:1216 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. autosomal dominant congenital benign spinal muscular atrophy congenital nonprogressive spinal muscular atrophy HMN8 OMIM:600175 congenital benign spinal muscular atrophy with contractures DOID:0111215 UMLS:C1838492 SCTID:763067000 autosomal dominant benign distal spinal muscular atrophy MEDGEN:373984 neuronopathy, distal hereditary motor, autosomal dominant