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Late\u2010onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late\u2010onset KD in a Chinese family. The first case involves a 25\u2010year\u2010old female who sought treatment due to long\u2010standing spastic gait and deformities in her lower limbs. A muscle biopsy revealed muscle atrophy, and electromyography indicated neurogenic damage. Her 27\u2010year\u2010old sister (Case 2) exhibited similar lower limb weakness, along with more severe central and peripheral neurological symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The patients' peripheral blood was retained for galactocerebrosidase (GALC) enzyme activity assaying and whole exome gene sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>GALC enzyme activity assaying showed decreased GALC activity and gene sequencing revealed homozygous mutation of p.L634S (c.1901T&gt;C) in the two cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study broadens the scope for considering of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70065","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T08:10:38Z","timestamp":1738138238000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Late\u2010Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review"],"prefix":"10.1002","volume":"13","author":[{"given":"Yujun","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Orthopeadic Surgery, Sun Yat\u2010Sen Memorial Hospital Sun Yat\u2010Sen University  Guangzhou People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayuan","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Orthopeadic Surgery, Sun Yat\u2010Sen Memorial Hospital Sun Yat\u2010Sen University  Guangzhou People's Republic of 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