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A Genetic Study of Chronic Spinal Muscular Atrophy

Published online by Cambridge University Press:  01 August 2014

Sarah Bundey  and
R.E. Lovelace
Sarah Bundey*
Affiliation:
The Moore Clinic, The Johns Hopkins Hospital, Baltimore, Maryland The Neurological Institute, Columbia Presbyterian Hospital, New York, N.Y., USA
R.E. Lovelace
Affiliation:
The Moore Clinic, The Johns Hopkins Hospital, Baltimore, Maryland The Neurological Institute, Columbia Presbyterian Hospital, New York, N.Y., USA
*
The Infant Development Unit, Queen Elizabeth Medical Centre, Edgbaston, Birmingham B15 2TG, Great Britain

Abstract

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The identity of an autosomal recessive form of chronic spinal muscular atrophy with clinical features intermediate between acute Werdnig-Hojfmann disease and Kugelberg-Welander disease is confirmed. This form accounts for the majority of patients with spinal muscular atrophy surviving into adult life. Spinal muscular atrophy with onset after 2 years of age is a heterogeneous group and both autosomal recessive and autosomal dominant forms occur.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 229 - 232
Copyright
Copyright © The International Society for Twin Studies 1974