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The diversity of new clinical presentations regarding neuromuscular involvement is astonishing and transformed APBD in a key differential diagnosis of completely different clinical conditions, including axonal and demyelinating sensorimotor polyneuropathy, progressive spastic paraparesis, motor neuronopathy presentations, autonomic disturbances, leukodystrophies or even pure myopathic involvement with limb\u2010girdle pattern of weakness. This review article aims to summarize the main clinical, biochemical, genetic, and diagnostic aspects regarding APBD with special focus on neuromuscular presentations.<\/jats:p>","DOI":"10.1002\/jimd.12325","type":"journal-article","created":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T18:13:43Z","timestamp":1604427223000},"page":"534-543","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["<scp><i>GBE1<\/i><\/scp>\u2010related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7416-7108","authenticated-orcid":false,"given":"Paulo Victor Sgobbi","family":"Souza","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery Federal University of S\u00e3o Paulo (UNIFESP) S\u00e3o Paulo SP 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