Genetics of Juvenile Spinal Muscular Atrophy

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-11-6-10

Keywords:

Spinal Muscular Atrophy, Survival Motor Neuron, GM2 Gangliosidosis

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.

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Published

1997-06-01

Issue

Vol 11, No 06 | Jun 1997

Section

Degenerative Diseases

License

Copyright (c) 1997 The Author(s)

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