Toe-walking in heterozygous carriers of McArdle disease
McArdle disease (glycogen storage disease type V) is a metabolic myopathy often onset in the first decade of life. The main symptoms of the disease include myalgia and fatigue in the first few minutes of exercise, as well as its intolerance, including contractures, stiffness and / or weakness of the...
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| Language: | Russian |
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Open Systems Publication
2022-07-01
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| Series: | Лечащий Врач |
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| Online Access: | https://journal.lvrach.ru/jour/article/view/927 |
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| author | D. Pomarino A. A. Emelina J. R. Thren K. Rostazy |
| author_facet | D. Pomarino A. A. Emelina J. R. Thren K. Rostazy |
| author_sort | D. Pomarino |
| collection | DOAJ |
| description | McArdle disease (glycogen storage disease type V) is a metabolic myopathy often onset in the first decade of life. The main symptoms of the disease include myalgia and fatigue in the first few minutes of exercise, as well as its intolerance, including contractures, stiffness and / or weakness of the muscles used. These symptoms are usually precipitated by isometric exercise (eg, weight lifting) or long-term vigorous aerobic exercise (eg, stair climbing, jogging), and often improve with rest. The literature describes the clinical heterogeneity of the symptoms of the disease – in addition to a severe, rapidly progressive form, 10% of patients have mild manifestations (for example, fatigue and low endurance, but without the formation of contractures) or a practically asymptomatic course in everyday life. Weakness, which occurs in about 20% of patients, is more likely to involve the proximal muscles and is more common in people over 40 years of age. It is noteworthy that the PYGM gene variants are characterized by phenotypic heterogeneity; two patients may have an identical genetic variant but show symptoms of varying severity. This article describes a clinical case of a 9-year-old patient with the c.1354G>A, Ala452Thr mutation in the PYGM gene. Mutation of this gene is associated with McArdle disease, which has a recessive mode of inheritance. The examined heterozygous carrier of the gene had mild symptoms of the disease, among which the main ones were fatigue and toe walking. Due to the formed deformity of the feet, it was decided that surgery was necessary. The patient underwent percutaneous myofasciotomy. The postoperative period passed without complications. When examined after 6 months, there was no recurrence of walking on toes. Thus, the manifestations of McArdle disease are very diverse, they can manifest, among other things, in the form of gait anomalies and foot deformities, including in carriers of the gene. |
| format | Article |
| id | doaj-art-6034decc233a4643a56155caecd4eac7 |
| institution | Kabale University |
| issn | 1560-5175 2687-1181 |
| language | Russian |
| publishDate | 2022-07-01 |
| publisher | Open Systems Publication |
| record_format | Article |
| series | Лечащий Врач |
| spelling | doaj-art-6034decc233a4643a56155caecd4eac72025-08-20T03:37:06ZrusOpen Systems PublicationЛечащий Врач1560-51752687-11812022-07-0105-6575910.51793/OS.2022.25.6.010922Toe-walking in heterozygous carriers of McArdle diseaseD. Pomarino0A. A. Emelina1J. R. Thren2K. Rostazy3Praxis Pomarino for children with gait abnormalitiesPraxis Pomarino for children with gait abnormalitiesPraxis Pomarino for children with gait abnormalitiesClinic for Pediatric and Youth Medicine, University of Witten-HerdeckeMcArdle disease (glycogen storage disease type V) is a metabolic myopathy often onset in the first decade of life. The main symptoms of the disease include myalgia and fatigue in the first few minutes of exercise, as well as its intolerance, including contractures, stiffness and / or weakness of the muscles used. These symptoms are usually precipitated by isometric exercise (eg, weight lifting) or long-term vigorous aerobic exercise (eg, stair climbing, jogging), and often improve with rest. The literature describes the clinical heterogeneity of the symptoms of the disease – in addition to a severe, rapidly progressive form, 10% of patients have mild manifestations (for example, fatigue and low endurance, but without the formation of contractures) or a practically asymptomatic course in everyday life. Weakness, which occurs in about 20% of patients, is more likely to involve the proximal muscles and is more common in people over 40 years of age. It is noteworthy that the PYGM gene variants are characterized by phenotypic heterogeneity; two patients may have an identical genetic variant but show symptoms of varying severity. This article describes a clinical case of a 9-year-old patient with the c.1354G>A, Ala452Thr mutation in the PYGM gene. Mutation of this gene is associated with McArdle disease, which has a recessive mode of inheritance. The examined heterozygous carrier of the gene had mild symptoms of the disease, among which the main ones were fatigue and toe walking. Due to the formed deformity of the feet, it was decided that surgery was necessary. The patient underwent percutaneous myofasciotomy. The postoperative period passed without complications. When examined after 6 months, there was no recurrence of walking on toes. Thus, the manifestations of McArdle disease are very diverse, they can manifest, among other things, in the form of gait anomalies and foot deformities, including in carriers of the gene.https://journal.lvrach.ru/jour/article/view/927toe-walkingmcardle diseaseidiopathic toe walkingpygm geneheredity |
| spellingShingle | D. Pomarino A. A. Emelina J. R. Thren K. Rostazy Toe-walking in heterozygous carriers of McArdle disease Лечащий Врач toe-walking mcardle disease idiopathic toe walking pygm gene heredity |
| title | Toe-walking in heterozygous carriers of McArdle disease |
| title_full | Toe-walking in heterozygous carriers of McArdle disease |
| title_fullStr | Toe-walking in heterozygous carriers of McArdle disease |
| title_full_unstemmed | Toe-walking in heterozygous carriers of McArdle disease |
| title_short | Toe-walking in heterozygous carriers of McArdle disease |
| title_sort | toe walking in heterozygous carriers of mcardle disease |
| topic | toe-walking mcardle disease idiopathic toe walking pygm gene heredity |
| url | https://journal.lvrach.ru/jour/article/view/927 |
| work_keys_str_mv | AT dpomarino toewalkinginheterozygouscarriersofmcardledisease AT aaemelina toewalkinginheterozygouscarriersofmcardledisease AT jrthren toewalkinginheterozygouscarriersofmcardledisease AT krostazy toewalkinginheterozygouscarriersofmcardledisease |