Spinal muscular atrophy: from rags to riches

Mercuri, Eugenio

doi:10.1016/j.nmd.2021.08.009

Cited by 21 publications

(19 citation statements)

References 75 publications

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“…O diagnóstico da Atrofia Muscular Espinhal vem de um processo já conhecido sem sofrer muitas alterações, mas que sofreu muita evolução na precisão com os anos, normalmente os sinais e sintomas clínicos desencadeiam o diagnóstico, como hipotonia, fraqueza muscular afetando mais os membros inferiores, insuficiência respiratória e fraqueza (MERCURI et al, 2018).…”

Section: Resultados E Discussõesunclassified

Jornada Integrada do Centro Universitário Santa Maria

Isidório¹,

Costa²,

Feitosa³

et al. 2023

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A IV Jornada Integrada do Centro Universitário Santa Maria (UNIFSM), realizada entre os dias 1 e 2 dezembro, foi um evento voltado à comunidade acadêmica da instituição, com o objetivo de proporcionar aos discentes e docentes espaços de reflexão sobre a realidade social e as implicações na formação acadêmica, bem como em outras instâncias da vida cotidiana. Objetivou, também, permitir a partilha de produção científica, incentivando debates que contribuam para a integração entre ensino, pesquisa e extensão.

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Section: Resultados E Discussõesunclassified

Jornada Integrada do Centro Universitário Santa Maria

Isidório¹,

Costa²,

Feitosa³

et al. 2023

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“…Neu ist auch das Management der Skoliose, die heute früher und mit neuen Techniken chirurgisch behandelt wird. Unbedingt sollten auch individuelle Behandlungspläne für Akut- und Notfallsituationen erstellt und mit den Erstversorgern geteilt werden 5 .…”

Section: Behandlungsstandardsunclassified

Spinale Muskelatrophie im Erwachsenenalter

Walter¹,

Hiebeler²

2022

Fortschr Neurol Psychiatr

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Die 5q-assoziierte spinale Muskelatrophie (SMA) ist eine fortschreitende autosomal rezessive Motoneuronerkrankung mit einer Inzidenz von 1:11 000 Lebendgeburten, die durch den Verlust des Survival Motor Neuron 1-Gens (SMN1) verursacht wird 1. Additiv zur bisherigen multidisziplinären supportiven pulmonalen, gastroenterologischen, orthopädischen, neuropädiatrischen und neuromuskulären Behandlung wurden in den letzten Jahren 3 bahnbrechende erkrankungsmodifizierende Therapien der 5q-assoziierten spinalen Muskelatrophie (SMA) zugelassen, die Phänotypen und Therapielandschaft entscheidend verändert und damit neue Standards für die Beeinflussung von Neurodegeneration ermöglicht haben: Nusinersen/Spinraza als Antisense-Oligonukleotidtherapie, Onasemnogene abeparvovec/Zolgensma als eine AAV9-basierte Genersatztherapie, und Risdiplam/Evrysdi als ein „small Molecule Modifier“ des pre-mRNA Splicings.

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“…The discovery of the molecular and genetic bases of spinal muscular atrophy (SMA) linked to chromosome 5q stimulated the search for new clinical treatments and sensitive markers to monitor the evolution of patients. [1][2][3][4] In the current scenario, disease-modifying therapies associated with multidisciplinary care showed promising results in clinical trials and real-life studies. [5][6][7] Spinal muscular atrophy is a rare genetic disease that affects the motor neurons, causing hypotonia, progressive muscle weakness, and delay and loss of motor function.…”

Section: Introductionmentioning

confidence: 99%

“…8,9 The disease is classified according to age of onset of symptoms and maximum motor function achieved, which results in a wide spectrum of phenotypes grouped into four types (I, II, III, and IV). 1,8,9 About 70% of SMA cases are classified as the most severe type (I), characterized by early symptom onset (that is, before 6 months of age), difficulty in cervical control, and inability to sit and roll over. 8,10 Over time, the loss of motor function results in reduced movements and intolerance to some postures.…”

Section: Introductionmentioning

confidence: 99%

Brazilian version of the CHOP INTEND scale: cross-cultural adaptation and validation

Alves,

Calado,

Van Der Linden

et al. 2023

Arq Neuropsiquiatr

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Background Spinal muscular atrophy (SMA) is a rare genetic disease that causes progressive muscle weakness and impacts motor function. The type I is the most severe presentation and affects infants before 6 months old. In addition, the instruments available for assessing motor function have limitations when applied to infants with neuromuscular diseases and significant muscle weakness. Objective To translate, cross-culturally adapt, and validate the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) to Brazilian Portuguese. Methods The present study comprised the translation, synthesis of translations, backtranslation, consolidation by a committee of experts, and test of the final version of the CHOP INTEND in 13 patients with SMA type I. We also assessed the content validity and reliability of the translated version. Results The scale was translated considering semantic, structural, idiomatic, and cultural aspects. All agreement rates were > 0.8, the overall content validity index of the instrument was 0.98, and inter-rater reliability using the intraclass correlation coefficient was 0.998. Conclusion The Brazilian version of the CHOP INTEND met semantic and technical equivalence criteria with the original version and was valid and reliable for patients with SMA type I.

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Spinal muscular atrophy: from rags to riches

Cited by 21 publications

References 75 publications

Jornada Integrada do Centro Universitário Santa Maria

Jornada Integrada do Centro Universitário Santa Maria

Spinale Muskelatrophie im Erwachsenenalter

Brazilian version of the CHOP INTEND scale: cross-cultural adaptation and validation

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