Camptocormia as a feature of Mc Ardle's disease: A case report
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a fea...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000126 |
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| author | Mathilde Nicolas Chloé Giret Sybille Pellieux Annick Toutain Anne-Marie Bergemer-Fouquet Pascal Laforêt Loic Bouilleau François Maillot |
| author_facet | Mathilde Nicolas Chloé Giret Sybille Pellieux Annick Toutain Anne-Marie Bergemer-Fouquet Pascal Laforêt Loic Bouilleau François Maillot |
| author_sort | Mathilde Nicolas |
| collection | DOAJ |
| description | Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the PYGM gene the common c.148C > T [p.(Arg50*)] variant and a missense variant in exon 12, c.1471C > T [p.(Arg491Cys)]. GSD 5 and Pompe disease are both glycogen storage diseases in which axial involvement has been described. Although probably underestimated, severe axial myopathy has been rarely reported in GSD 5. We suggest that the long-lasting symptoms associated with camptocormia should be considered as possible initial features of GSD 5. |
| format | Article |
| id | doaj-art-08602d113ff14ec7a2236b6decf48b2a |
| institution | Kabale University |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-08602d113ff14ec7a2236b6decf48b2a2025-02-03T04:16:43ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-03-0142101197Camptocormia as a feature of Mc Ardle's disease: A case reportMathilde Nicolas0Chloé Giret1Sybille Pellieux2Annick Toutain3Anne-Marie Bergemer-Fouquet4Pascal Laforêt5Loic Bouilleau6François Maillot7CHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France; Université de Tours, FranceCHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France; Université de Tours, FranceCHRU de Tours, Service de Médecine Physique et Réadaptation, Tours, FranceUniversité de Tours, France; CHRU de Tours, Service de Génétique, Tours, France; UMR INSERM 1253 “iBraiN”, Tours, FranceUniversité de Tours, France; CHRU de Tours, Service d'Anatomopathologie, Tours, FranceUniversité de Paris Saclay, Paris, France; APHP Hôpital Raymond Poincaré, Service de Neurologie, Garches, FranceCHRU de Tours, Service de Radiologie, Tours, FranceCHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France; Université de Tours, France; UMR INSERM 1253 “iBraiN”, Tours, France; Corresponding author at: Internal Medicine Department, University Hospital of Tours, 2Bd Tonnellé, Tours, France.Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the PYGM gene the common c.148C > T [p.(Arg50*)] variant and a missense variant in exon 12, c.1471C > T [p.(Arg491Cys)]. GSD 5 and Pompe disease are both glycogen storage diseases in which axial involvement has been described. Although probably underestimated, severe axial myopathy has been rarely reported in GSD 5. We suggest that the long-lasting symptoms associated with camptocormia should be considered as possible initial features of GSD 5.http://www.sciencedirect.com/science/article/pii/S2214426925000126Glycogen storage disease type 5McArdle's diseaseCamptocormia |
| spellingShingle | Mathilde Nicolas Chloé Giret Sybille Pellieux Annick Toutain Anne-Marie Bergemer-Fouquet Pascal Laforêt Loic Bouilleau François Maillot Camptocormia as a feature of Mc Ardle's disease: A case report Molecular Genetics and Metabolism Reports Glycogen storage disease type 5 McArdle's disease Camptocormia |
| title | Camptocormia as a feature of Mc Ardle's disease: A case report |
| title_full | Camptocormia as a feature of Mc Ardle's disease: A case report |
| title_fullStr | Camptocormia as a feature of Mc Ardle's disease: A case report |
| title_full_unstemmed | Camptocormia as a feature of Mc Ardle's disease: A case report |
| title_short | Camptocormia as a feature of Mc Ardle's disease: A case report |
| title_sort | camptocormia as a feature of mc ardle s disease a case report |
| topic | Glycogen storage disease type 5 McArdle's disease Camptocormia |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000126 |
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