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55 - Spinal muscular atrophies

from Part IX - Motor neuron diseases

Published online by Cambridge University Press:  04 August 2010

M. Flint Beal ,
Anthony E. Lang  and
Albert C. Ludolph
By
Klaus Zerres  and
Sabine Rudnik-Schöneborn
M. Flint Beal
Affiliation:
Cornell University, New York
Anthony E. Lang
Affiliation:
University of Toronto
Albert C. Ludolph
Affiliation:
Universität Ulm, Germany
Klaus Zerres
Affiliation:
Institute for Human Genetics, University of Technology, Aachen, Germany
Sabine Rudnik-Schöneborn
Affiliation:
Institute for Human Genetics, University of Technology, Aachen, Germany
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Summary

Definition

The term spinal muscular atrophy (SMA) comprises a clinically and genetically heterogeneous group of diseases characterized by degeneration and loss of the anterior horn cells in the spinal cord, and – depending on type and severity – sometimes also in the brainstem nuclei, resulting in muscle weakness and atrophy. The sensory neurons are always clinically spared, and there are no signs of upper motor neuron (pyramidal tract) involvement (Emery, 1971).

The subdivision of the SMAs into separate genetic and clinical entities (Table 55.1) is still controversial unless biochemical or molecular genetic criteria are available to define distinct pathomechanisms. The criteria used are age of onset, severity (progression, age of death), distribution of weakness, the inclusion of additional features, and different modes of inheritance.

Epidemiology

Autosomal recessive proximal SMA is one of the most common inherited diseases leading to death in early infancy. According to a rough estimate, less than 2% of cases with an onset before 10 years of age show a parent-to-child transmission (Emery, 1971). While vertical transmission of childhood-onset proximal SMA is an exception, autosomal dominant transmission can be found in about two-thirds of the adult-onset proximal SMA families (Pearn, 1978a). Assuming an incidence of about 1:10000 for all types of autosomal recessive SMA, it has been estimated that adult SMA accounts for 8% of all SMA cases, with a prevalence of 0.32 per 100 000 of the population (Pearn, 1978b). Distal SMA accounts for about 10% of all SMAs (Pearn & Hudgson, 1979).

Type
Chapter
Information
Neurodegenerative Diseases
Neurobiology, Pathogenesis and Therapeutics
 , pp. 817 - 826
Publisher: Cambridge University Press
Print publication year: 2005

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