Rigid spine syndrome in late-onset Pompe disease: A case report and review of the literature

Ng, Zhong-Ming and Tan, Cheng-Yin and Low, Soon-Chai and Shahrizaila, Nortina and Goh, Khean-Jin (2021) Rigid spine syndrome in late-onset Pompe disease: A case report and review of the literature. Neurology Asia, 26 (2). pp. 413-418. ISSN 1823-6138,

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Late-onset Pompe disease (LOPD) with rigid spine syndrome (RSS) is a rare phenotype. We report a Chinese man with RSS and mild proximal lower limb weakness since 15 years old. Imaging of paravertebral muscles was normal, while electromyography showed continuous complex repetitive discharges, suggesting paravertebral muscle hyperactivity as a cause of rigidity. L alike previous reported cases, he carried compound heterozygous GAA mutations, including the c.2238G>C, p.Trp746Cys allele, common in Chinese LOPD patients. Combined with two common pseudodeficiency alleles, his genotype predicted a more severe phenotype, as suggested by a very low acid alpha-glucosidase (GAA) activity (<0.1 mu mol/L/hour) on dried blood spot test and a forced vital capacity of 40% of predicted values. Our case demonstrates the absence of genotype-phenotype correlation in LOPD patients with RSS. Continuous muscle hyperactivity could be a reason for spinal rigidity in our patient.

Item Type: Article
Funders: Sanofi Genzyme (Malaysia)
Uncontrolled Keywords: Late-onset Pompe disease; Rigid spine syndrome; Chinese; acid alpha-glucosidase; Pseudodeficiency
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine
Depositing User: Ms Zaharah Ramly
Date Deposited: 21 Jul 2022 04:57
Last Modified: 21 Jul 2022 04:57
URI: http://eprints.um.edu.my/id/eprint/28084

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