Duchenne muscular dystrophy

D Duan, N Goemans, S Takeda, E Mercuri… - Nature Reviews …, 2021 - nature.com
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads
to difficulties with movement and, eventually, to the need for assisted ventilation and …

Do 8-to 18-year-old children/adolescents with chronic physical health conditions have worse health-related quality of life than their healthy peers? A meta-analysis of …

N Silva, M Pereira, C Otto, U Ravens-Sieberer… - Quality of Life …, 2019 - Springer
Purpose This meta-analytic review aimed to estimate the magnitude of health-related quality
of life (HrQoL) impairments, as assessed by the KIDSCREEN questionnaires, both self-and …

A review of quality of life themes in Duchenne muscular dystrophy for patients and carers

L Uttley, J Carlton, HB Woods, J Brazier - Health and Quality of Life …, 2018 - Springer
Abstract Duchenne Muscular Dystrophy (DMD) is a severe, life-limiting and incurable
condition. However, studies estimating quality of life and those measuring actual quality of …

Measuring quality of life in Duchenne muscular dystrophy: a systematic review of the content and structural validity of commonly used instruments

PA Powell, J Carlton, HB Woods, P Mazzone - Health and quality of life …, 2020 - Springer
Duchenne muscular dystrophy (DMD) is an inherited X-linked neuromuscular disorder. A
number of questionnaires are available to assess quality of life in DMD, but there are …

Measuring quality of life in children with spinal muscular atrophy: a systematic literature review

S Vaidya, S Boes - Quality of Life Research, 2018 - Springer
Objectives Spinal muscular atrophy (SMA) is a rare, hereditary, autosomal recessive
neuromuscular disorder that, in its most severe forms, impacts infants and children. Once …

Quality of life assessment instruments in children and adolescents with neuromuscular diseases: a systematic scoping review

KLT Cruz, ICS Santos… - Health and Quality of …, 2024 - Springer
Objective (1) To identify instruments used to assess quality of life (QoL) in children and
adolescents with neuromuscular diseases;(2) To identify the psychometric properties …

Instruments for the assessment of behavioral and psychosocial functioning in Duchenne and Becker muscular dystrophy; a systematic review of the literature

DMJ Hellebrekers, JM Lionarons… - Journal of Pediatric …, 2019 - academic.oup.com
Objective This systematic review aims to provide an overview of instruments used to assess
behavioral and psychosocial functioning of patients with Duchenne and Becker muscular …

Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment

L Juříková, L Masárová, R Panovský, M Pešl… - Frontiers in …, 2024 - frontiersin.org
In this prospective study involving 37 Duchenne muscular dystrophy (DMD) patients aged 8–
18 years and older, we examined the impact of neurological and cardiac factors on quality of …

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

P Mohammadi, MA Daneshmand, N Mahdieh… - Acta Neurologica …, 2021 - Springer
Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders,
caused by homozygous or compound heterozygous mutations in the POMGNT1 gene …

The quality of life in children with spinal muscular atrophy: a case–control study

G Zamani, MR Ashrafi, H Ghabeli, MG Akbari… - BMC pediatrics, 2022 - Springer
Objectives This study aimed to analyze the health-related quality of life (HRQoL) of patients
with spinal muscular atrophy (SMA) based on the type of SMA, demographic and clinical …