Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment
Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatm...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2020-08-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/387 |
| _version_ | 1826558055366524928 |
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| author | V. M. Kenis V. N. Komantsev A. Yu. Dimitrieva E. V. Melchenko E. S. Morenko |
| author_facet | V. M. Kenis V. N. Komantsev A. Yu. Dimitrieva E. V. Melchenko E. S. Morenko |
| author_sort | V. M. Kenis |
| collection | DOAJ |
| description | Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity. |
| first_indexed | 2024-03-12T04:52:14Z |
| format | Article |
| id | doaj.art-cf036b15e5bb4d5c92d638550a8f50ed |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2025-03-14T08:38:24Z |
| publishDate | 2020-08-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-cf036b15e5bb4d5c92d638550a8f50ed2025-03-02T12:54:44ZrusABV-pressНервно-мышечные болезни2222-87212413-04432020-08-01102535910.17650/2222-8721-2020-10-2-53-59272Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatmentV. M. Kenis0V. N. Komantsev1A. Yu. Dimitrieva2E. V. Melchenko3E. S. Morenko4H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of Russia; North-Western State Medical University named after I.I. Mechnikov, Ministry of Health of RussiaSaint-Petersburg Institute for the Advancement of Medical Experts, Ministry of Labor of RussiaNorth-Western State Medical University named after I.I. Mechnikov, Ministry of Health of RussiaH. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of RussiaH. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of RussiaSchwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity.https://nmb.abvpress.ru/jour/article/view/387chondrodystrophic myotoniaschwartz–jampel syndrome comprehensive diagnosticssurgical treatment |
| spellingShingle | V. M. Kenis V. N. Komantsev A. Yu. Dimitrieva E. V. Melchenko E. S. Morenko Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment Нервно-мышечные болезни chondrodystrophic myotonia schwartz–jampel syndrome comprehensive diagnostics surgical treatment |
| title | Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment |
| title_full | Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment |
| title_fullStr | Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment |
| title_full_unstemmed | Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment |
| title_short | Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment |
| title_sort | schwartz jampel syndrome comprehensive diagnostics and orthopedic treatment |
| topic | chondrodystrophic myotonia schwartz–jampel syndrome comprehensive diagnostics surgical treatment |
| url | https://nmb.abvpress.ru/jour/article/view/387 |
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