preferred_name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
preferred_name_lc: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
label: spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant
label_lc: spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant