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Spinal muscular atrophy

Olaf A Bodamer, MD, PhD, FAAP, FACMG
Section Editors
Douglas R Nordli, Jr, MD
Helen V Firth, DM, FRCP, DCH
Richard Martin, MD
Deputy Editor
John F Dashe, MD, PhD


Neuromuscular disorders that present in the newborn period with hypotonia and weakness are caused by a variety of conditions that affect the central nervous system (brain or spinal cord), peripheral nervous system, or skeletal muscle. Conditions that affect the anterior horn cells of the spinal cord are listed in the table (table 1).

This topic will review clinical aspects of spinal muscular atrophy (SMA).


SMA disorders are characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. These diseases are classified as types 1 through 4 depending upon the age of onset and clinical course.

The incidence of spinal muscular atrophy ranges from 4 to 10 per 100,000 live births, and the carrier frequency of disease-causing SMN1 mutations ranges from 1/90 to 1/50 [1]. (See 'Genetics' below.)

Classification — SMA type 1, also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease, is the most common and severe type of SMA. It typically presents in the neonatal period. However, mothers of affected patients may recognize a decrease or loss of fetal movement in late pregnancy. Some experts classify prenatal onset as SMA type 0 [2,3]. In these neonatal forms, symptoms progress rapidly, and the majority of infants die before one year of age from respiratory failure [4,5]. Nevertheless, long-term survivors have been reported [6-8]. This is perhaps due, in part, to advances in the care of chronic respiratory insufficiency and to more aggressive care. (See 'Management' below.)


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Literature review current through: Feb 2017. | This topic last updated: Thu Jan 26 00:00:00 GMT 2017.
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