Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties

Cruz, Karoliny Lisandra Teixeira; Camargos, Ana Cristina Resende; Cardoso, Juliana; Baptista, Cyntia de Jesus Alves de Rogean; Ramos, Aline Duprat; Mattiello-Sverzut, Ana Cláudia; Burns, Joshua; Leite, Hércules Ribeiro

doi:10.1016/j.bjpt.2020.07.008

Cited by 8 publications

(12 citation statements)

References 35 publications

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“…13 Other prognostic, functional, and disability scores were not evaluated during this study. 14 15 16 17 This study was approved by our institutional ethics boarding. Informed consent for adult patients and legal representative of the involved children and informed assent for the children were properly obtained.…”

Section: Methodsmentioning

confidence: 99%

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

et al. 2022

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Charcot–Marie–Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36.1 ± 18.3 years. The mean age at onset was 6.1 ± 4.4 years. The most common initial complaint was bilateral pes cavus. The genetic basis included PMP22 duplication (CMT1A) (n = 18), GJB1 (CMTX1) (n = 5), MPZ (CMT1B) (n = 3), FIG4 (CMT4J) (n = 3), SH3TC2 (CMT4C) (n = 1), PLEKHG5 (CMTRIC) (n = 1), and PRX (CMT4F) (n = 1). Almost all patients (n = 31) presented with moderate or severe compromise in the CMT neuropathy score 2 with the highest values observed in CMT1B. Medical history disclosed obstructive sleep apnea (n = 5), aseptic meningitis (n = 1/MPZ), akinetic-rigid parkinsonism (n = 1/FIG4), and overlapping chronic inflammatory demyelinating polyneuropathy (n = 1/MPZ). Motor conduction block was detected in three individuals (PMP22, FIG4, MPZ). Acute denervation occurred in seven patients. Nonuniform demyelinating patterns were seen in four individuals (two CMT1A, one CMT1B, and one CMTX1). Abnormal cerebral white matter findings were detected in CMT1A and CMTX1, while hypertrophic roots were seen in CMT1A, CMT1B, and CMTX1. Our study emphasizes a relative oligogenic basis in childhood-onset demyelinating CMT and atypical findings may be observed especially in MPZ, PMP22, and GJB1 gene variants.

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Section: Methodsmentioning

confidence: 99%

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

et al. 2022

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“…A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária que afeta os nervos periféricos. 1 Mutações em genes que são responsáveis por codificar proteínas importantes na estruturação da mielina periférica e na manutenção do calibre axonal podem originar duas grandes formas de CMT: a desmielinizante (CMT1) e mais prevalente e a axonal (CMT2). 1 Apesar de ter um fenótipo variável, a maioria dos pacientes apresenta fraqueza distal, perda de sensibilidade somatossensorial, deformidade nos pés (pés cavos e dedos em martelo) e nas mãos (mãos em garra).…”

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“…1 Mutações em genes que são responsáveis por codificar proteínas importantes na estruturação da mielina periférica e na manutenção do calibre axonal podem originar duas grandes formas de CMT: a desmielinizante (CMT1) e mais prevalente e a axonal (CMT2). 1 Apesar de ter um fenótipo variável, a maioria dos pacientes apresenta fraqueza distal, perda de sensibilidade somatossensorial, deformidade nos pés (pés cavos e dedos em martelo) e nas mãos (mãos em garra). 2 Devido a esses sintomas, os pacientes com CMT apresentam níveis altos de fadiga, relatando sensação de cansaço e falta de energia, quando comparados a crianças saudáveis.…”

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“…5 A CMTPedS é uma ferramenta confiável, válida e sensível, foi validada para o português 1 e possui 11 itens que permitem avaliar e acompanhar o desempenho e gravidade da doença. 1,5 Ela gera um escore que varia de 0 a 44 pontos, sendo que quanto menor a pontuação maior o comprometimento. 1,5 Desse modo, o presente estudo buscou investigar se a funcionalidade dos pacientes com CMT1, avaliada com a escala CMTPedS, se associa com a fatigabilidade e com a força isométrica máxima de preensão palmar mensurada com um dinamômetro de bulbo.…”

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“…1,5 Ela gera um escore que varia de 0 a 44 pontos, sendo que quanto menor a pontuação maior o comprometimento. 1,5 Desse modo, o presente estudo buscou investigar se a funcionalidade dos pacientes com CMT1, avaliada com a escala CMTPedS, se associa com a fatigabilidade e com a força isométrica máxima de preensão palmar mensurada com um dinamômetro de bulbo.…”

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Correlação entre a CMTPedS-Br e variáveis de força e fadiga em crianças e adolescentes com CMT1

et al. 2022

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Development of the Brazilian version of the Performance of Upper Limb scale for children and adolescents with Duchenne muscular dystrophy

Cardoso,

Silva,

Davoli

et al. 2024

Brazilian Journal of Physical Therapy

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Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties

Cited by 8 publications

References 35 publications

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

Correlação entre a CMTPedS-Br e variáveis de força e fadiga em crianças e adolescentes com CMT1

Development of the Brazilian version of the Performance of Upper Limb scale for children and adolescents with Duchenne muscular dystrophy

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