McArdle disease: a case report and review
Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typicall...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Dove Medical Press
2012-01-01
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| Series: | International Medical Case Reports Journal |
| Online Access: | http://www.dovepress.com/mcardle-disease-a-case-report-and-review-a9102 |
| _version_ | 1818304851252084736 |
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| author | Leite A Oliveira N Rocha M |
| author_facet | Leite A Oliveira N Rocha M |
| author_sort | Leite A |
| collection | DOAJ |
| description | Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylase |
| first_indexed | 2024-12-13T06:17:16Z |
| format | Article |
| id | doaj.art-b375442b276549bab66a8be6552ffb9f |
| institution | Directory Open Access Journal |
| issn | 1179-142X |
| language | English |
| last_indexed | 2024-12-13T06:17:16Z |
| publishDate | 2012-01-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | International Medical Case Reports Journal |
| spelling | doaj.art-b375442b276549bab66a8be6552ffb9f2022-12-21T23:56:57ZengDove Medical PressInternational Medical Case Reports Journal1179-142X2012-01-012012default14McArdle disease: a case report and reviewLeite AOliveira NRocha MAlberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylasehttp://www.dovepress.com/mcardle-disease-a-case-report-and-review-a9102 |
| spellingShingle | Leite A Oliveira N Rocha M McArdle disease: a case report and review International Medical Case Reports Journal |
| title | McArdle disease: a case report and review |
| title_full | McArdle disease: a case report and review |
| title_fullStr | McArdle disease: a case report and review |
| title_full_unstemmed | McArdle disease: a case report and review |
| title_short | McArdle disease: a case report and review |
| title_sort | mcardle disease a case report and review |
| url | http://www.dovepress.com/mcardle-disease-a-case-report-and-review-a9102 |
| work_keys_str_mv | AT leitea mcardlediseaseacasereportandreview AT oliveiran mcardlediseaseacasereportandreview AT rocham mcardlediseaseacasereportandreview |