label: Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1
label_lc: autosomal dominant lower extremity-predominant spinal muscular atrophy-1
description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.