Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Objective: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice. This updated interim report (data cut-off: January 31, 2022), describes STRIDE patient characteristics and ataluren safety data, as well as the effectiveness of ataluren plus standard of care (SoC) in STRIDE versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS).

Methods: Patients are followed up from enrollment for at least 5 years or until study withdrawal.

Quantitative Myasthenia Gravis Score: a Brazilian multicenter study for translation, cultural adaptation and validation.

Objective: To perform the translation, cross-cultural adaptation and validation of the Quantitative Myasthenia Gravis Score (QMGS) to Brazilian Portuguese in accordance with international ethical standards.

Methods: The following steps were taken: (1) implementation of the translation protocol and transcultural adaptation, (2) validation of the adapted content, and (3) assessment of reliability. To check intra- and inter-observer reproducibility, each patient underwent two interviews with interviewer-A and one with B.

Hand Function in Muscular Dystrophies.

The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. Thirty patients diagnosed with Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy Type 1, and fascioscapulohumeral dystrophy were submitted to the shoulder, elbow, and wrist domains of PUL, and to JTT subtests. Spearman tests investigated the relationships between PUL and JTT total scores and domains.

Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?

Objective: The relationship between functional dependence and quality of life (QOL) in Duchenne muscular dystrophy (DMD) patients and burden and QOL in caregivers is not clear. This study investigated possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers.

Method: This study included 35 boys (6-17 years) and respective caregivers (above 21 years).

Comparison of motor strength and function in patients with Duchenne muscular dystrophy with or without steroid therapy.

Objective: To compare muscle strength (MS) and motor function in patients with Duchenne muscular dystrophy (DMD) receiving steroids for different times against the natural evolution of DMD described by Scott et al.

Method: 90 patients with DMD (aged 5- 12 years), receiving steroids for one to seven years, were evaluated by Medical Research Council Scale (MRC) and Hammersmith motor ability score. The relation between MS and motor abilities measurement from our data and Scott's ones were ascertained statistically.

Visuospatial attention disturbance in Duchenne muscular dystrophy.

Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to investigate attentional function in individuals with DMD.

Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapy.

Objective: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD), aged between 5 and 12 years on steroid therapy.

Method: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC) scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk.

Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases.

Unlabelled: The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgroup.

Objective: To analyze the immunohistochemical expression of the main proteins of the dystrophin-glycoproteins associated complex in muscle biopsy of patients with different CMD phenotypes, for investigating a possible correlation with clinical and histopathological data.

Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.

Unlabelled: Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed.

Objective: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy.