Spinal muscular atrophy presenting with mild limb-girdle weakness in adulthood: Diagnostic pitfalls in the era of disease-modifying therapies

J Neurol Sci. 2022 Sep 15:440:120347. doi: 10.1016/j.jns.2022.120347. Epub 2022 Jul 25.

Authors

Martin Krenn¹, Suren Jengojan², Wolfgang Grisold³

Affiliations

¹ Department of Neurology, Medical University of Vienna, Vienna, Austria.
² Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
³ Ludwig Boltzmann Institute for Experimental und Clinical Traumatology, Vienna, Austria. Electronic address: grisoldw@gmail.com.

PMID: 35908306
DOI: 10.1016/j.jns.2022.120347

No abstract available

Keywords: Electromyography; Genetic testing; Muscle MRI; SMN1; Spinal muscular atrophy.

Publication types

Letter

MeSH terms

Adult
Electromyography
Humans
Muscle Weakness / etiology
Muscular Atrophy, Spinal* / complications
Muscular Atrophy, Spinal* / diagnosis
Muscular Dystrophies, Limb-Girdle* / complications
Muscular Dystrophies, Limb-Girdle* / diagnosis
Muscular Dystrophies, Limb-Girdle* / genetics