Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press7710.17650/2222-8721-2012-0-2-29-39LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫClinico‑genetic heterogeneity of chondrodysthrophic myotoniaКлинико-генетическая гетерогенность хондродистрофической миотонииShnayderN. A.ШнайдерН. А.
Russian Federation
NASchnaider@yandex.ruKrasnoyarsk State Medical University named after Prof. V.F. Vojno‑YasenetskyКрасноярский ГМУ им. проф. В.Ф. Войно‑Ясенецкого, Красноярск200420122229392002201520022015Copyright ©; 2012, Shnayder N.A.Copyright ©; 2012, Шнайдер Н.А.2012Shnayder N.A.Шнайдер Н.А.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/77

Chondrodystrophic myotonia characterized by generalized myotonic myopathy, masklike face, skeletal dysplasia, contracture of joints,growth retardation and bone maturation delay. Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2 (Stuve–Wiedemann syndrome), and the classical form (Schwartz–Jampel syndrome) with late infantile or childhood manifestation. Therapy targets electrical stabilization of the muscle membrane. Successful therapies include anticonvulsants and antiarrhythmic drugs.

Хондродистрофическая миотония характеризуется генерализованной миотонической миопатией, маскообразным лицом, скелетной дисплазией, контрактурами суставов, задержкой роста и созревания костной ткани. Идентифицировано два типа заболевания в зависимости от возраста дебюта: тяжелая неонатальная форма, которую иногда называют 2 типом (синдром Стува–Видеманна), и классическая форма (синдром Шварца–Джампела) с дебютом в младенческом или детском возрасте.

chondrodystrophic myotoniaSchwartz–Jampel syndromegeneticsclinicsхондродистрофическая миотониясиндром Шварца–Джампелагенетикаклиника1. Иллариошкин С.Н. Миотонические синдромы. Обзор. Неврол журн 1998; 6:42−51.Иллариошкин С.Н. Миотонические синдромы. Обзор. Неврол журн 1998; 6:42−51.2. Лобзин В.С., Сайкова Л.А., Шиман А.Г. Нервно-мышечные болезни. СПб.: Гиппократ, 1998. С. 138−144.Лобзин В.С., Сайкова Л.А., Шиман А.Г. Нервно-мышечные болезни. СПб.: Гиппократ, 1998. С. 138−144.3. Миотония. Руководство для врачей. Под ред. Н.А. Шнайдер, В.В. Шпраха, С.Ю. Никулиной. М.: НМФ МБН, 2005. 245 с.Миотония. Руководство для врачей. Под ред. Н.А. Шнайдер, В.В. Шпраха, С.Ю. Никулиной. М.: НМФ МБН, 2005. 245 с.4. Schwartz O., Jampel R.S. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962;68:52−7.Schwartz O., Jampel R.S. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962;68:52−7.5. Nicole S., Ben Hamida C., Beighton P. et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34‑p36.1 by homozygosity mapping. Hum Molec Genet 1995;4:1633−6.Nicole S., Ben Hamida C., Beighton P. et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34‑p36.1 by homozygosity mapping. Hum Molec Genet 1995;4:1633−6.6. Navarrete Faubel F.E., Perez Aytes A., Pastor Rosado J. et al. Schwartz-Jampel syndrome type 2 versus Stuve-Wiedemann syndrome. An Esp Pediatr 2002; 56(5):473−4.Navarrete Faubel F.E., Perez Aytes A., Pastor Rosado J. et al. Schwartz-Jampel syndrome type 2 versus Stuve-Wiedemann syndrome. An Esp Pediatr 2002; 56(5):473−4.7. Al‑Gazali L.I., Varghese M., Varady E. et al. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. J Med Genet 1996;33(3):203−11.Al‑Gazali L.I., Varghese M., Varady E. et al. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. J Med Genet 1996;33(3):203−11.8. Moodley M., Moosa A. Chondrodystrophic myotonia (Schwartz- Jampel syndrome) in South African children. Neuropediatr 1990;21:206−11.Moodley M., Moosa A. Chondrodystrophic myotonia (Schwartz- Jampel syndrome) in South African children. Neuropediatr 1990;21:206−11.9. Ptacek L.J., Johnson K.J., Griggs R.C. Genetics and physiology of the myotonic muscle disorders. J Med 1993; 328:482−9.Ptacek L.J., Johnson K.J., Griggs R.C. Genetics and physiology of the myotonic muscle disorders. J Med 1993; 328:482−9.10. Reed U.C., Reimao R., Espindola A.A. et al. Schwartz-Jampel syndrome: report of five cases. Arq Neuropsiquiatr 2002; 60(3):734−8.Reed U.C., Reimao R., Espindola A.A. et al. Schwartz-Jampel syndrome: report of five cases. Arq Neuropsiquiatr 2002; 60(3):734−8.11. Rosignoli R., Zanini F. Sindrome di Schwartz-Jampe. Minerva Pediat 1983; 35:509−13.Rosignoli R., Zanini F. Sindrome di Schwartz-Jampe. Minerva Pediat 1983; 35:509−13.12. Pascuzzi R.M., Gratianne R., Azzarelli B. et al. Schwartz-Jampel syndrome with dominant inheritance.Pascuzzi R.M., Gratianne R., Azzarelli B. et al. Schwartz-Jampel syndrome with dominant inheritance.Muscle Nerve 1990;13:1152−63.13. Manikoth P., Nair A.K., Al Khusaiby S.M., Rajab A. Neonatal Schwartz-Jampel syndrome with dense bones. The Internet Journal of Pediatrics and Neonatology 2005;5(1).Manikoth P., Nair A.K., Al Khusaiby S.M., Rajab A. Neonatal Schwartz-Jampel syndrome with dense bones. The Internet Journal of Pediatrics and Neonatology 2005;5(1).14. Arikawa‑Hirasawa E., Le A.H., Nishino I. et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002;70:1368−75.Arikawa‑Hirasawa E., Le A.H., Nishino I. et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002;70:1368−75.15. Arikawa‑Hirasawa E., Wilcox W.R., Le A.H. et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet 2001;27:431−4.Arikawa‑Hirasawa E., Wilcox W.R., Le A.H. et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet 2001;27:431−4.16. Nicole S., Davoine C.‑S., Topaloglu H. et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000;26:480−3.Nicole S., Davoine C.‑S., Topaloglu H. et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000;26:480−3.17. Pinto‑Escalante D., Ceballos‑Quintal J.M., Canto‑Herrera J. Identical twins with the classical form of Schwartz-Jampel syndrome. Clin Dysmorphol 1997;6(1):45−9.Pinto‑Escalante D., Ceballos‑Quintal J.M., Canto‑Herrera J. Identical twins with the classical form of Schwartz-Jampel syndrome. Clin Dysmorphol 1997;6(1):45−9.18. Sigaudy S., Moncla A., Fredouille C. et al. Congenital Bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Clin Dysmorphol 1998; 7:257−62.Sigaudy S., Moncla A., Fredouille C. et al. Congenital Bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Clin Dysmorphol 1998; 7:257−62.19. Superti‑Furga A., Tenconi R., Clementi M. et al. Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for «lumping». Am J Med Genet 1998;78:150−4.Superti‑Furga A., Tenconi R., Clementi M. et al. Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for «lumping». Am J Med Genet 1998;78:150−4.20. Ho N.C., Sandusky S., Madike V. et al. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol 2003;3(1):3.Ho N.C., Sandusky S., Madike V. et al. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol 2003;3(1):3.21. Spranger J., Hall B.D., Hane B. et al. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 2000;94:287−95.Spranger J., Hall B.D., Hane B. et al. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 2000;94:287−95.22. Al‑Gazali L.I. The Schwartz-Jampel syndrome. Clin Dysmorph 1991;2: 313−22.Al‑Gazali L.I. The Schwartz-Jampel syndrome. Clin Dysmorph 1991;2: 313−22.23. Ben Becher S., El Mabrouk J., Debbiche A. et al. Schwartz-Jampel syndrome (osteochondromuscularBen Becher S., El Mabrouk J., Debbiche A. et al. Schwartz-Jampel syndrome (osteochondromusculardystrophy). Arch Fr Pediatr 1992;49(9):802.24. Stevenson R. Micromelic chondrodysplasia. Proc Greenwood Genet Ctr1982;1:52–4.Stevenson R. Micromelic chondrodysplasia. Proc Greenwood Genet Ctr1982;1:52–4.25. Viljoen D., Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet1992;29:58−62.Viljoen D., Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet1992;29:58−62.26. Satar Yapicioglu H.M., Yildizdas D., Narli N. et al. Schwartz-Jampel syndrome: three pediatric case reports. Genet Couns 2003;14:353−8.Satar Yapicioglu H.M., Yildizdas D., Narli N. et al. Schwartz-Jampel syndrome: three pediatric case reports. Genet Couns 2003;14:353−8.27. Шнайдер Н.А. Злокачественная гипертермия: генетика, диагностика, профилактика. Острые и неотложные состояния в практике врача. 2007; 4: 32−6.Шнайдер Н.А. Злокачественная гипертермия: генетика, диагностика, профилактика. Острые и неотложные состояния в практике врача. 2007; 4: 32−6.28. Шнайдер Н.А. Злокачественная гипертермия: лечение. Острые и неотложные состояния в практике врача. 2007; 5:30−3.Шнайдер Н.А. Злокачественная гипертермия: лечение. Острые и неотложные состояния в практике врача. 2007; 5:30−3.29. Littleford J.A., Patel M.A., Bose D. et al. Masseter muscle spasm in children: implications of continuing the triggering anesthetic. Anest Analg 1991;72:151−60.Littleford J.A., Patel M.A., Bose D. et al. Masseter muscle spasm in children: implications of continuing the triggering anesthetic. Anest Analg 1991;72:151−60.30. Ishpekova B., Rasheva M., Moskov M. Schwartz-Jampel syndrome: clinical, electromyographic and genetic studies. Electromyogr Clin Neurophysiol 1996; 36:91−7.Ishpekova B., Rasheva M., Moskov M. Schwartz-Jampel syndrome: clinical, electromyographic and genetic studies. Electromyogr Clin Neurophysiol 1996; 36:91−7.31. Iwata H., Ozawa H., Kamei A. et al. Siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings. Brain Dev 2000; 22(8):494−7.Iwata H., Ozawa H., Kamei A. et al. Siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings. Brain Dev 2000; 22(8):494−7.32. Баранов В.С. Молекулярная диагностика генных болезней в России: состояние и перспективы. Вестн Рос АМН 1993;9:27−31.Баранов В.С. Молекулярная диагностика генных болезней в России: состояние и перспективы. Вестн Рос АМН 1993;9:27−31.33. Bird Т.D., Bennett R.L. Why do DNA testing? Practical and ethical implications of new neurogenetic tests. Ann Neurol 1995; 38:141−6.Bird Т.D., Bennett R.L. Why do DNA testing? Practical and ethical implications of new neurogenetic tests. Ann Neurol 1995; 38:141−6.34. Giedion A., Boltshauser E., Briner J. et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997;156(3):214−23.Giedion A., Boltshauser E., Briner J. et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997;156(3):214−23.35. Meola G., Sansone V. Therapy in myotonic disorders and in muscle channelopathies. Neurol Sci 2000;Meola G., Sansone V. Therapy in myotonic disorders and in muscle channelopathies. Neurol Sci 2000;21(5):953−61.(5):953−61.36. Pascuzzi R.M. Schwartz-Jampel Syndrome. Semin Neurol 1991;11:267−73.Pascuzzi R.M. Schwartz-Jampel Syndrome. Semin Neurol 1991;11:267−73.37. Kurihara T. New classification and treatment for myotonic disorders. Int Med 2005;44(10):1027−32.Kurihara T. New classification and treatment for myotonic disorders. Int Med 2005;44(10):1027−32.38. Kwiecinski H., Ryniewicz B., Ostrzycki A. Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand 1992;86(4):371−5.Kwiecinski H., Ryniewicz B., Ostrzycki A. Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand 1992;86(4):371−5.39. Schulman S. Malignant hyperthermia and pediatric anesthesia. Semin Anesth 1993;12:54−64.Schulman S. Malignant hyperthermia and pediatric anesthesia. Semin Anesth 1993;12:54−64.40. Schutte J.K., Gerbershagen M.U., Wappler F. Anaesthesia associated rhabdomyolysis. Diagnosis, therapy and prevention of skeletal muscle breakdown. Anasthesiol Intensivmed Notfallmed Schmerzther 2006;41(7−8):454−61.Schutte J.K., Gerbershagen M.U., Wappler F. Anaesthesia associated rhabdomyolysis. Diagnosis, therapy and prevention of skeletal muscle breakdown. Anasthesiol Intensivmed Notfallmed Schmerzther 2006;41(7−8):454−61.41. Шнайдер Н.А., Шнайдер В.А. Организация работы и роль консультанта-невролога в профилактике неврологических осложнений общей анестезии. Методическое пособие. Красноярск: Издательство КрасГМА, 2003. 96 с.Шнайдер Н.А., Шнайдер В.А. Организация работы и роль консультанта-невролога в профилактике неврологических осложнений общей анестезии. Методическое пособие. Красноярск: Издательство КрасГМА, 2003. 96 с.42. Wadlund D.L. Prevention, recognition, and management of nursing complications in the intraoperative and postoperative surgical patient. Nurs Clin North Am 2006;41(2):151−71.Wadlund D.L. Prevention, recognition, and management of nursing complications in the intraoperative and postoperative surgical patient. Nurs Clin North Am 2006;41(2):151−71.43. Яхно Н.Н. Наследственные заболевания в неврологии. Врач 1999;6:15–9.Яхно Н.Н. Наследственные заболевания в неврологии. Врач 1999;6:15–9.44. Mankodi A., Thornton C.A. Myotonic syndromes. Curr Opin Neurol 2002;15(5)545−52.Mankodi A., Thornton C.A. Myotonic syndromes. Curr Opin Neurol 2002;15(5)545−52.45. Russell S.H., Hirsch N.P. Anaesthesia and myotonia. Br J Anaesth 1994;72:210−6.Russell S.H., Hirsch N.P. Anaesthesia and myotonia. Br J Anaesth 1994;72:210−6.