Early recognition of <i>SGCE</i>‐myoclonus–dystonia in children

Correa‐Vela, Marta; Carvalho, João Nuno; Ferrero-Turrion, Julia; Cazurro-Gutiérrez, Ana; Vanegas, Maria; Gonzalez, Victoria; Álvarez, Ramiro; Marcé‐Grau, Anna; Moreno, Antonio; Macaya-Ruiz, Alfons; Pérez‐Dueñas, Belén

doi:10.1111/dmcn.15298

Cited by 4 publications

(5 citation statements)

References 24 publications

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“…Важность фокальной дистонии как первого признака заболевания была подчеркнута Correa-Vela, Marta et al в анализе 49 случаев SGCE-ассоциированного СМД у пациентов детского возраста. Писчий спазм, развившийся в детстве, а также дистония ходьбы и бега в виде круговой тряски ногой «circular shaking leg», волочения ноги «dragging leg» и походки лошади-любителя «hobby-horse gait» были выделены как ранние признаки возможного SGCE-ассоциированного СМД [22]. Схожие данные были представлены ранее.…”

Section: Discussionunclassified

Myoclonus-Dystonia Syndrome: Clinical Manifestations, Effectiveness of Therapy Using the Example of 11 Cases

Куликова,

Гришкевич,

Чернуха

et al. 2023

Неврология И Нейрохирургия. Восточная Европа

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Введение. Синдром миоклонус-дистонии (СМД) – группа генетически гетерогенных недегенеративных клинических состояний, характеризующихся сочетанием миоклонуса и дистонии в качестве единственных или наиболее выраженных симптомов. Цель. Проанализировать клинические проявления и эффективность терапии СМД у 11 пациентов. Материалы и методы. Ретроспективно проанализированы данные 11 пациентов (6 – мужского пола) из 10 семей, которым был выставлен диагноз СМД. Медиана возраста на момент развития первых симптомов заболевания составила 3 года [IQR: 3,0; 12,5], на момент выполнения исследования – 21 год [IQR: 19,0; 38,0]. Эффективность терапии оценивали следующим образом: полное купирование симптомов – высоко-эффективен, купировано более 50% симптомов – эффективен, менее 50% – частично эффективен, без влияния на симптомы заболевания – неэффективен. Результаты. Первым симптомом заболевания в 72,7% случаев являлся миоклонус, в 27,3% – дистония. Миоклонус в 87,5% наблюдений первично возникал в верхних конечностях. На момент последнего неврологического осмотра у 100% пациентов имелись как миоклонический, так и дистонический гиперкинезы. У 90,9% пациентов отмечалась фокальная либо сегментарная дистония, у 9,1% – генерализованная. В 54,5% случаев были зафиксированы дополнительные экстрапирамидные нарушения. У 57,1% опрошенных наблюдались сопутствующие психиатрические симптомы. В 18,2% случаев симптомы заболевания полностью купировались приемом алкоголя. В 50,0% наблюдений отмечался отягощенный наследственный анамнез по схожим гиперкинезам. В 100% случаев применялась симптоматическая медикаментозная терапия. Использовались противосудорожные препараты (ПСП) – 90,9%, миорелаксанты – 90,9%, ноотропные препараты – 90,9%, препараты леводопы – 72,7%, бензодиазепины – 63,6%, инъекции ботулотоксина – 27,3%, антихолинергические средства – 27,3% и ингибиторы везикулярного переносчика моноаминов 2-го типа – 27,3%. Были эффективны: ПСП – 20,0%, бензодиазепины – 14,3%, препараты леводопы – 12,5%. Продемонстрировали частичный эффект: ПСП – 70,0%, миорелаксанты – 30,0%, бензодиазепины – 28,6%. Инъекции ботулотоксина имели высокую эффективность в отношении дистонии в 100% случаев использования. Оперативное лечение по имплантации электродов для DBS выполнялось 3 (27,3%) пациентам и было эффективно в 33,3% случаев, высокоэффективно – в 66,7%. Выводы. Средний возраст дебюта заболевания приходится на первую декаду жизни. Пациенты часто имеют отягощенный наследственный анамнез по схожим двигательным расстройствам. Первым симптомом обычно является миоклонический гиперкинез в верхних конечностях. К третьей декаде жизни все пациенты имеют как миоклонус, так и дистонию. Медикаментозное лечение ограничено достаточно низкой эффективностью. Высокую эффективность демонстрируют инъекции ботулотоксина, DBS. Introduction. Myoclonus-dystonia syndrome (MDS) is a group of heterogeneous, non- degenerative clinical conditions characterized by a combination of myoclonus and dystonia as the only or most prominent symptoms. Purpose. To analyze the clinical manifestations and effectiveness of therapy for MDS in 11 patients. Materials and methods. Information of 11 patients (6 males) with MDS diagnose from 10 families were retrospectively analyzed. The age of first symptoms of the disease is 3 years [IQR: 3.0; 12.5], age at the time of analysis – 21 years [IQR: 19.0; 38.0]. The effectiveness of therapy was assessed as follows: complete relief of symptoms – highly effective, relief of more than 50% – effective, less than 50% – partially effective, without affecting the symptoms of the disease – not effective. Results. The first symptom of the disease in 72.7% of cases was myoclonus, in 27.3% – dystonia. Myoclonus in 87.5% of cases primarily occurred in the upper extremities. At the time of the last neurological examination, 100% of patients had both myoclonic and dystonic hyperkinesis. 90.9% of patients had focal or segmental dystonia, and 9.1% had generalized dystonia. In 54.5% of cases, additional extrapyramidal disorders were recorded. 57.1% of respondents had concomitant psychiatric symptoms. In 18.2% of cases, the symptoms of the disease were completely stopped by taking alcohol. In 50.0% of cases, there was a burdened hereditary history of similar hyperkinesis. In 100% of cases, symptomatic drug therapy was used. Anticonvulsants were used – 90.9%, muscle relaxants – 90.9%, nootropic drugs – 90.9%, levodopa drugs – 72.7%, benzodiazepines – 63.6%, botulinum toxin injections – 27.3%, anticholinergic agents – 27.3% and the second type of monoamine vesicular transporter inhibitors – 27.3%. Were effective: anticonvulsants – 20.0%, benzodiazepines – 14.3%, levodopa drugs – 12.5%. Demonstrated a partial effect: anticonvulsants – 70.0%, muscle relaxants – 30.0%, benzodiazepines – 28.6%. Botulinum toxin injections were highly effective against dystonia in 100% of cases of use. Surgical treatment for implantation of electrodes for DBS was performed in 3 (27.3%) patients and was effective in 33.3% of cases, highly effective – in 66.7%. Conclusions. The average age of the onset of the disease falls on the first decade of life. Patients often have a burdened hereditary history of similar motor disorders. Usually the first symptom is myoclonic hyperkinesis in the upper extremities. By the third decade of life, all patients have both myoclonus and dystonia. Medical treatment is limited by a rather low efficiency. High efficiency are demonstrated by botulinum toxin injections, DBS.

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Section: Discussionunclassified

Myoclonus-Dystonia Syndrome: Clinical Manifestations, Effectiveness of Therapy Using the Example of 11 Cases

Куликова,

Гришкевич,

Чернуха

et al. 2023

Неврология И Нейрохирургия. Восточная Европа

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“…The gene produces the transmembrane protein ε-sarcoglycan, which has an isoform unique to the brain. Because of maternal imprinting, this genetic abnormality has reduced penetrance and is transmitted autosomally and dominantly [53]. Leg involvement is less likely in the myoclonic jerks typical of SGCE myoclonus-dystonia (SGCE-M-D), which typically impact the neck, trunk, and upper limbs.…”

Section: The Genetic Background Of Dystoniamentioning

confidence: 99%

Genetic Update and Treatment for Dystonia

Koptielow,

Szyłak,

Szewczyk-Roszczenko

et al. 2024

IJMS

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A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease’s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson’s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.

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“…Myoclonus-Dystonia (M-D) is a rare, childhood-onset movement disorder characterized by myoclonic jerks predominantly in the upper body, and dystonia, mostly cervical dystonia and writer's cramp [1][2][3][4]. Motor symptoms are often alcohol responsive [5].…”

Section: Introductionmentioning

confidence: 99%

ε-sarcoglycan myoclonus-dystonia—overview of neurophysiological, behavioral, and imaging characteristics

Hamami,

Gerkensmeier,

Münchau

et al. 2024

Dystonia

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Myoclonus-Dystonia is a rare, neurological movement disorder, clinically characterized by myoclonic jerks and dystonic symptoms, such as cervical dystonia and writer’s cramp. Psychiatric symptoms, like anxiety, depression, and addiction, are frequently reported. Monogenic Myoclonus-Dystonia is mostly caused by pathogenic variants in the ε-sarcoglycan gene, which is among other regions highly expressed in the cerebellum. The current pharmacological treatment is not satisfactory. Neurophysiological and imaging studies in this patient population are scarce with partly heterogeneous results and sometimes important limitations. However, some studies point towards subcortical alterations, e.g., of the cerebellum and its connections. Further studies addressing previous limitations are important for a better understanding of the underlying pathology of Myoclonus-Dystonia and might build a bridge for the development of future treatment.

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Early recognition of SGCE‐myoclonus–dystonia in children

Cited by 4 publications

References 24 publications

Myoclonus-Dystonia Syndrome: Clinical Manifestations, Effectiveness of Therapy Using the Example of 11 Cases

Myoclonus-Dystonia Syndrome: Clinical Manifestations, Effectiveness of Therapy Using the Example of 11 Cases

Genetic Update and Treatment for Dystonia

ε-sarcoglycan myoclonus-dystonia—overview of neurophysiological, behavioral, and imaging characteristics

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