Genetics of Juvenile Spinal Muscular Atrophy

Abstract

A 20-year-old female with difficulties in running and climbing stairs since age 10 and suspected of having spinal muscular atrophy (SMA) type III (Kugelberg-Welander disease) was diagnosed with GM2 gangliosidosis at the Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, and Sapir Medical Center, Kfar-Sava, Israel.

Keywords

• spinal muscular atrophy
• survival motor neuron
• gm2 gangliosidosis