Abstract
The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority. In recent years adult onset SMA has been identified as a major cause of the limb girdle syndrome2. The carrier frequency for one of the SMA genes is estimated to be 1 in 40 Caucasians. Most types show autosomal recessive inheritance1,3. Muscle biopsy and EMG are important diagnostic investigations which provide evidence of denervation. However EMG may be particularly difficult to perform in the very young infant. The serum creatine phosphokinase (CPK) is usually in the normal range, except in the more chronic syndromes when the level may be moderately raised.
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© 1985 Janice R. Anderson
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Anderson, J.R. (1985). Spinal Muscular Atrophy (SMA). In: Atlas of Skeletal Muscle Pathology. Current Histopathology, vol 9. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-4866-2_5
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DOI: https://doi.org/10.1007/978-94-009-4866-2_5
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