Infants With Spinal Muscular Atrophy Type I

Study Summary

Background: \- Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years. Objectives: \- To study how the symptoms of SMA 1 progress in infants and children. Eligibility: \- Infants and children with SMA 1 born on or after January 1, 2007. Design: * Researchers will review the child s medical records and talk with parents by telephone. * For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age. Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone. \- No treatment or care will be provided as part of this study.