Stiff-person syndrome with early onset in infancy
The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromy...
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| Language: | Russian |
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ABV-press
2015-06-01
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| Series: | Nervno-Myšečnye Bolezni |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/116 |
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doaj-448df56f459748f1b2a021456cc14f372021-07-29T08:13:27ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432015-06-0152384310.17650/2222-8721-2015-5-2-38-43109Stiff-person syndrome with early onset in infancyS. A. Malmberg0E. L. Dadali1D. B. Jumakchanov2A. Kch. Djaksibaeva3Department of Clinical Physiology and Functional Diagnosis of Institute of Advanced Training at FMBA of RussiaFederal State Budget Research Institution “Research Centre of Medical Genetics”National Research Center for Maternal and Child HealthNational Research Center for Maternal and Child HealthThe case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.https://nmb.abvpress.ru/jour/article/view/116stiff-person syndromemuscle rigiditypainful muscle spasmsearly-onset casedifferential diagnosisaxial musclesmotor unit hyperactivityglutamic acid decarboxylasegabaelectromyography |
| collection |
DOAJ |
| language |
Russian |
| format |
Article |
| sources |
DOAJ |
| author |
S. A. Malmberg E. L. Dadali D. B. Jumakchanov A. Kch. Djaksibaeva |
| spellingShingle |
S. A. Malmberg E. L. Dadali D. B. Jumakchanov A. Kch. Djaksibaeva Stiff-person syndrome with early onset in infancy Nervno-Myšečnye Bolezni stiff-person syndrome muscle rigidity painful muscle spasms early-onset case differential diagnosis axial muscles motor unit hyperactivity glutamic acid decarboxylase gaba electromyography |
| author_facet |
S. A. Malmberg E. L. Dadali D. B. Jumakchanov A. Kch. Djaksibaeva |
| author_sort |
S. A. Malmberg |
| title |
Stiff-person syndrome with early onset in infancy |
| title_short |
Stiff-person syndrome with early onset in infancy |
| title_full |
Stiff-person syndrome with early onset in infancy |
| title_fullStr |
Stiff-person syndrome with early onset in infancy |
| title_full_unstemmed |
Stiff-person syndrome with early onset in infancy |
| title_sort |
stiff-person syndrome with early onset in infancy |
| publisher |
ABV-press |
| series |
Nervno-Myšečnye Bolezni |
| issn |
2222-8721 2413-0443 |
| publishDate |
2015-06-01 |
| description |
The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed. |
| topic |
stiff-person syndrome muscle rigidity painful muscle spasms early-onset case differential diagnosis axial muscles motor unit hyperactivity glutamic acid decarboxylase gaba electromyography |
| url |
https://nmb.abvpress.ru/jour/article/view/116 |
| work_keys_str_mv |
AT samalmberg stiffpersonsyndromewithearlyonsetininfancy AT eldadali stiffpersonsyndromewithearlyonsetininfancy AT dbjumakchanov stiffpersonsyndromewithearlyonsetininfancy AT akchdjaksibaeva stiffpersonsyndromewithearlyonsetininfancy |
| _version_ |
1721256895926239232 |