Disorders

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Synonym(s): Kugelberg-Welander Syndrome, Autosomal Dominant, SMALED, SMA-LED, Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant, Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

OMIM

Gene	Locus	Protein
DYNC1H1	14q32.31	Cytoplasmic dynein 1 heavy chain 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.