Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness
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- Takenaka Yu
- Division of Neurology, Kobe University Graduate School of Medicine Hyogo-Chuo National Hospital
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- Sekiguchi Kenji
- Division of Neurology, Kobe University Graduate School of Medicine
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- Sekiya Hiroaki
- Division of Neurology, Kobe University Graduate School of Medicine
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- Ohno Kinji
- Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine
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- Sugie Hideo
- Faculty of Health and Medical Sciences, Tokoha University
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- Matsumoto Riki
- Division of Neurology, Kobe University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 神経筋接合部異常が示唆されたphosphoglucomutase 1欠損症の1例
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Abstract
<p>A 27 year-old Canadian man suffered from fluctuating muscle weakness in the past several years. The patient had a past history of intestinal bleeding, bifid uvula and hypothyroidism in his childhood. Repetitive nerve stimulation tests showed a decrement pattern in the left deltoid muscle. The single fiber electromyography of the left extensor digitorum muscle showed an increment of jitter. Both findings were improved by the edrophonium test. He was diagnosed as having phosphoglucomutase 1 (PGM1) deficiency, as the compound heterozygote mutation of the PGM1 gene was recognized in the whole-exome sequencing and the enzyme activity of PGM1 was defective in the biopsied muscle. Treatment with the galactose lead to improvement of the fluctuating muscle weakness and decremental pattern in the repetitive stimulation test. PGM1 deficiency should be listed in the differential diagnosis of the neuromuscular junction disorder, when the patient is seronegative for antibodies related with myasthenia gravis and shows symptoms or signs consistent with PGM1 deficiency.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 60 (2), 152-156, 2020
Societas Neurologica Japonica