ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2024.86.23ymj-295Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEВрожденная миодистрофия Ульриха: описание клинических случаевUllrich congenital muscular dystrophy: сlinical case studyГоликоваП. И.GolikovaP. I.

Голикова Полина Иннокентьевна – к.м.н., с.н.с.

Golikova Polina Innokentievna – PhD, senior researcher

Golikova2906@gmail.comМосквитинГ. Д.MoskvitinG. D.

Москвитин Гаврил Дмитриевич – м.н.с.

Moskvitin Gavril Dmitrievich – junior researcher

СухомясоваА. Л.SukhomyasovaA. L.

Сухомясова Айталина Лукична – к.м.н., в.н.с.

Sukhomyasova Aitalina Lukichna – PhD, Visiting Research Fellow

ГуриноваЕ. Е.GurinovaE. E.

Гуринова Елизавета Егоровна – врач-генетик

Gurinova Elizaveta Egorovna – geneticist

НиколаеваИ. А.NikolaevaI. A.

Николаева Ирина Аверьевна – врач-генетик

Nikolaeva Irina Averyevna – geneticist

ИвановаР. Н.IvanovaR. N.

Иванова Роза Николаевна м.н.с.

Ivanova Roza Nikolaevna – junior researcher

СофроноваВ. М.SofronovaV. M.

Софронова Виктория Максимовна – н.с.

Sofronova Victoria Maksimovna – researcher

МаксимоваН. Р.MaksimovaN. R.

Максимова Надежда Романовна – д.м.н., гл.н.с.

Maksimova Nadezhda Romanovna – MD, chief researcher

НИЛ «Молекулярная медицина и генетика человека» МИ СВФУ им. М.К. АммосоваРоссияScientific Research Laboratory 'Molecular Medicine and Human Genetics', M.K. Ammosov North-Eastern Federal University YakutskRussian FederationМедико-генетический центр РБ №1-НЦМРоссияScientific Research Laboratory 'Molecular Medicine and Human Genetics', M.K. Ammosov North-Eastern Federal University YakutskRussian FederationМедико-генетический центр РБ №1-НЦМРоссияMedical-genetic center RH No1 National Centre of MedicineRussian Federation2024070220250298102Copyright © Голикова П.И., Москвитин Г.Д., Сухомясова А.Л., Гуринова Е.Е., Николаева И.А., Иванова Р.Н., Софронова В.М., Максимова Н.Р., 20252025Голикова П.И., Москвитин Г.Д., Сухомясова А.Л., Гуринова Е.Е., Николаева И.А., Иванова Р.Н., Софронова В.М., Максимова Н.Р.Golikova P.I., Moskvitin G.D., Sukhomyasova A.L., Gurinova E.E., Nikolaeva I.A., Ivanova R.N., Sofronova V.M., Maksimova N.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/295

Целью сообщения было представить собственное наблюдение клинических случаев с врожденной миодистрофией Ульриха (ВМД) в двух неродственных якутских семьях.

Причиной заболевания в первой семье явились две мутации в компаунд-гетерозиготном состоянии: c.1561C>T и c.2329T>C в гене COL6A2, во второй семье мутация с.2329Т>C в гене COL6A2 в гомозиготном состоянии.

Несмотря на редкость заболевания, врачам неврологам и генетикам при выявлении симптомов миопатии, задержки моторного развития, наличия гиперподвижности в дистальных отделах суставов, контрастирующей с ретракциями проксимальных и аксиальных суставов, необходимо иметь настороженность на ВМД Ульриха. Методы секвенирования следующего поколения облегчают диагностику заболевания.

Introduction

Introduction. Ullrich congenital muscular dystrophy (Ullrich СMD, OMIM #254090) is the most severe form of skeletal muscle collagenopathy associated with three genes (COL6A1, COL6A2, COL6A3).

The purpose of the report was to present our own observation of clinical cases with Ullrich congenital muscular dystrophy in two unrelated Yakut families.

Materials and methods

Materials and methods. A clinical and genealogical examination, electroneuromyography, muscle MRI, muscle biopsy, and molecular genetic research using the massively parallel sequencing method were carried out.

Results

Results. The cause of the disease in the first family was two mutations in a compound heterozygous state: c.1561C>T and c.2329T>C in the COL6A2 gene; in the second family, the c.2329T>C mutation in the COL6A2 gene in a homozygous state. The clinical picture of the disease was manifested by muscle weakness and hypotonia, hypermobility of the interphalangeal joints, contractures of the elbow, ankle and knee joints, delayed motor development, spinal deformity, and skin changes. The type of inheritance in families is autosomal recessive.

Conclusions

Conclusions. Despite the rarity of the disease, neurologists and geneticists, when identifying symptoms of myopathy, delayed motor development, and the presence of hypermobility in the distal joints, contrasting with retractions of the proximal and axial joints, must be alert to Ullrich CMD. Next-generation sequencing techniques make it easier to diagnose the disease.

врожденная мышечная дистрофияболезнь УльрихаCOL6A2якутская семьяклинический случайcongenital muscular dystrophyUllrich's diseaseCOL6A2Yakut familyclinical caseРабота выполнена при финансовой поддержке Государственного задания Министерства науки и высшего образования РФ (проект № FSRG-2024-0001 «Геномика Арктики: диагностика, профилактика и лечение»)ReferencesВрожденные мышечные дистрофии: классификация и диагностика / Rivier F. И др. // Нервно-мышечные болезни. 2014. № 1. С. 6-20. https://doi.org/10.17650/2222-8721-2014-0-1-6-14.Congenital muscular dystrophies: classification and diagnostic strategy / Rivier F. [et al.] // Neuromuscular Diseases. 2014. Vol. 1. P. 6-20. https://doi.org/10.17650/2222-8721-2014-0-1-6-14.Овсова О.В., Михайлова Е.П. Описание клинического случая пациентки с врожденной мышечной дистрофией Ульриха // Уральский медицинский журнал. 2019. № 13 (181). С. 66-68.Ovsova O.V., Michaylova E.P. Сlinical case of a patient with Ulrich congenital muscular dystrophy // Ural medical journal. 2019. Vol. 13 (181). P. 66-68. DOI: 10.25694/ UKMJ.2019.13.19.Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Betlem myopathy / Lampe AK [et al.]. J Med Genet. 2005. Vol. 42. P. 108-120. DOI: 10.1136/img.2004.023754.Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Betlem myopathy / Lampe AK [et al.]. J Med Genet. 2005. Vol. 42. P. 108-120. DOI: 10.1136/img.2004.023754.Bӧnnemann C.G. The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy // Handb Clin Neurol. 2011. Vol. 101. P. 81-96. DOI: 10.1016/B978-0-08-045031-5.00005-0.Bӧnnemann C.G. The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy // Handb Clin Neurol. 2011. Vol. 101. P. 81-96. DOI: 10.1016/B978-0-08-045031-5.00005-0.Bushby K., Collins J., Hicks D. Collagen Type VI Myopathies // Adv Exp Med Biol. 2014. Vol. 802. P. 185-99. DOI: 10.1007/978-94-007-7893-1_12.Bushby K., Collins J., Hicks D. Collagen Type VI Myopathies // Adv Exp Med Biol. 2014. Vol. 802. P. 185-99. DOI: 10.1007/978-94-007-7893-1_12.Clinical features of collagen VI-related dystrophies: a large Brazilian cohort / Zanoteli E. [et al.] // Clinical Neurology and Neurosurgery. 2020. Vol. 192. P. 105734. DOI: 10.1016/j.clineuro.2020.105734Clinical features of collagen VI-related dystrophies: a large Brazilian cohort / Zanoteli E. [et al.] // Clinical Neurology and Neurosurgery. 2020. Vol. 192. P. 105734. DOI: 10.1016/j.clineuro.2020.105734https://www.ncbi.nlm.nih.gov/clinvar/variation/17166/https://www.ncbi.nlm.nih.gov/clinvar/variation/17166/https://www.ncbi.nlm.nih.gov/clinvar/variation/423719/https://www.ncbi.nlm.nih.gov/clinvar/variation/423719/Lampe AK, Bushby KM. Collagen VI related muscle disorders // J Med Genet. – 2005. Vol. 42. P. 673-685. DOI: 10.1136/jmg.2002.002311.Lampe AK, Bushby KM. Collagen VI related muscle disorders // J Med Genet. – 2005. Vol. 42. P. 673-685. DOI: 10.1136/jmg.2002.002311.Natural history of pulmonary function in collagen VI-related myopathies / Foley A.R. [et al.] // Brain. 2013. Vol. 136. P. 3625-3633. DOI: 10.1093/brain/awt284Natural history of pulmonary function in collagen VI-related myopathies / Foley A.R. [et al.] // Brain. 2013. Vol. 136. P. 3625-3633. DOI: 10.1093/brain/awt284Natural history of Ullrich congenital muscular dystrophy / Nadeau A. [et al.] Neurology. 2009. Vol. 73. P. 25-31. DOI: 10.1212/WNL.0b013e3181aae851Natural history of Ullrich congenital muscular dystrophy / Nadeau A. [et al.] Neurology. 2009. Vol. 73. P. 25-31. DOI: 10.1212/WNL.0b013e3181aae851New Molecular Mechanism for Ulrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 / Pan T.-C. [et al.] // Gene Causes a Severe Phenotype. Am. J. Hum. Genet. 2003. Vol. 73. P. 355-369. DOI: 10.1086/377107New Molecular Mechanism for Ulrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 / Pan T.-C. [et al.] // Gene Causes a Severe Phenotype. Am. J. Hum. Genet. 2003. Vol. 73. P. 355-369. DOI: 10.1086/377107Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ulrich Congenital Muscular Dystrophy / Liu C. [et al.] // Cells. 2019. Vol. 8. P. 459. DOI: 10.3390/cells8050459.Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ulrich Congenital Muscular Dystrophy / Liu C. [et al.] // Cells. 2019. Vol. 8. P. 459. DOI: 10.3390/cells8050459.Prevalence of genetic muscle disease in Northern England: indepth analysis of a muscle clinic population / Norwood F.L.M. [et al.]. // Brain. 2009. Vol. 132(011). P. 3175-3186. DOI: 10.1093/brain/awp236Prevalence of genetic muscle disease in Northern England: indepth analysis of a muscle clinic population / Norwood F.L.M. [et al.]. // Brain. 2009. Vol. 132(011). P. 3175-3186. DOI: 10.1093/brain/awp236Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations / Bozorgmehr, B. [et al.] // Iranian journal of child neurology. 2013. Vol. 7(3). P. 15–22.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations / Bozorgmehr, B. [et al.] // Iranian journal of child neurology. 2013. Vol. 7(3). P. 15–22.Yonekawa T., Nishino I. Ulrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s) // J Neurol Neurosurg Psychiatry. 2014. Vol. 0. P. 1-8. DOI: 10.1136/jnnp-2013-307052.Yonekawa T., Nishino I. Ulrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s) // J Neurol Neurosurg Psychiatry. 2014. Vol. 0. P. 1-8. DOI: 10.1136/jnnp-2013-307052.

The authors declare that there are no conflicts of interest present.