Cardiac involvement in children with neuro-muscular disorders

Arkhipova, Ekaterina A.

doi:10.17650/2222-8721-2015-5-4-10-15

Neuromuscular Diseases

2015

DOI: 10.17650/2222-8721-2015-5-4-10-15

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Cardiac involvement in children with neuro-muscular disorders

Ekaterina A. Arkhipova¹

Abstract: Лекции и обзоры 4'2015 ТОМ 5 VOL. 5Нервно-мышечные Б О Л Е З Н И Neuromuscular DISEASES Введение Многие нервно-мышечные болезни (НМБ), встре-чающиеся в детском возрасте, часто сочетаются с пора-жением миокарда. Среди наиболее распространенных из них -прогрессирующие мышечные дистрофии Дюшенна (МДД), Беккера (МДБ), Эмери-Дрейфуса (МДЭД), миотоническая дистрофия 1-го типа, а также группа поясно-конечностных мышечных дистрофий (ПКМД). Значимым вовлечением сердца также сопро-вождается атаксия Фридрейха. Выраженнос… Show more

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Cited by 2 publications

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Experience of observing patients with Duchenne myopathy

Minaycheva,

Petlina,

Ravzhaeva

et al. 2023

Rus. ž. det. nevrol.

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Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.

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Experience of observing patients with Duchenne myopathy

Minaycheva,

Petlina,

Ravzhaeva

et al. 2023

Rus. ž. det. nevrol.

View full text Add to dashboard Cite

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Differential diagnosis of Duchenne muscular dystrophy

Куренков

Кузенкова

Pak

et al. 2021

Nevrol. ž. im. L.O. Badalâna

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Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

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Cardiac involvement in children with neuro-muscular disorders

Cited by 2 publications

References 28 publications

Experience of observing patients with Duchenne myopathy

Experience of observing patients with Duchenne myopathy

Differential diagnosis of Duchenne muscular dystrophy

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