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A 34-Year-Old Male with Possible Myopathic Process 

A 34-Year-Old Male with Possible Myopathic Process
Chapter:
A 34-Year-Old Male with Possible Myopathic Process
Author(s):

Jeffrey A. Cohen

, Justin J. Mowchun

, Victoria H. Lawson

, and Nathaniel M. Robbins

DOI:
10.1093/med/9780190491901.003.0022
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date: 29 July 2021

Adult-onset spinal muscular atrophy (SMA type IV) presents in a manner similar to a myopathy. Normal CK and a neurogenic pattern of denervated changes on electrodiagnostic study suggest the actual diagnosis. The diagnosis of SMA is confirmed by the presence of a homozygous deletion or mutation of the SMN1 gene in most patients. Both the presence of SMN1 deletion/mutation and the effectiveness of rescue from a second copy of the gene, SMN2, determines the age at onset and severity of SMA. Differential includes other genetic conditions affecting motor neurons, postpolio syndrome, monomelic amyotrophy, and motor neuropathies/poly-radiculopathies. The management of SMA is predominantly supportive, but this can significantly impact quality of life.

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