Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

Generation of percentile curves for strength and functional abilities for boys with Duchenne muscular dystrophy.

Introduction/aims: Considering the heterogeneity of the clinical manifestations of Duchenne muscular dystrophy (DMD), it is important to describe their various clinical profiles. Thus, in this study we aimed to develop percentile curves for DMD using a battery of measures to define the patterns of functional abilities, timed tests, muscle strength, and range of motion (ROM).

Methods: This retrospective data analysis was based on the records of patients with DMD using the Motor Function Measure (MFM) scale, isometric muscle strength (IS), dorsiflexion ROM, 10-meter walk test (10 MWT), and 6-minute walk test (6 MWT).

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication.

Inter-rater reliability of the Rasch-modified medical research council scoring criteria for manual muscle testing in neuromuscular diseases.

It was argued that researchers and clinicians are not able to make judgments between most categories of the original Medical Research Council (MRC) scale and that a modified short version would reach higher agreement levels. We aimed to assess the inter-rater reliability for both the original and the Rasch-modified MRC scoring criteria of Manual Muscle Strength tests (MMSt) in patients with neuromuscular diseases. Two MRC scoring criteria were used to score muscle strength using MMSt in 40 muscle groups of the upper and lower limbs in patients with neuromuscular disorders.

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes.

Objective: This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population.

Alternative instrument for the evaluation of handgrip strength in Duchenne muscular dystrophy.

Background: The commonly used dynamometers can be ineffective in evaluating handgrip in patients with Duchenne muscular dystrophy (DMD), especially children with generalized muscle weakness. The aim of this study was to analyze whether the modified sphygmomanometer is an effective instrument for handgrip strength evaluation in patients with DMD, during different stages of the disease.

Method: The handgrip strength of 33 patients was evaluated by the Jamar dynamometer and the modified sphygmomanometer.

Acetyl-CoA-driven respiration in frozen muscle contributes to the diagnosis of mitochondrial disease.

Background: Freezing human biopsies is common in clinical practice for storage. However, this technique disrupts mitochondrial membranes, hampering further analyses of respiratory function. To contribute to laboratorial diagnosis of mitochondrial diseases, this study sought to develop a respirometry approach using O2k (Oroboros Ins.

The cross-cultural adaptation, construct validity, and intra-rater reliability of the functional mobility scale in Brazilian Portuguese for children and adolescents with spina bifida.

Purpose: The purpose of this study was to perform a cross-cultural adaptation of the Functional Mobility Scale (FMS) to Brazilian Portuguese and analyse its construct validity and intra-rater reliability in a sample of caregivers of children and adolescents with spina bifida (SB).

Material And Methods: The cross-cultural adaptation followed five stages: two forward translations, synthesis, back-translation, committee review and pre-testing ( = 20). Construct validity was assessed by comparing the FMS with the classifications of Hoffer and Schoenmakers ( = 40).

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS.

Cross-cultural adaptation and validation of the Brazilian version of the Wisconsin Brief Pain Questionnaire.

Context: Chronic pain is a common complaint among patients with muscular disease. The Wisconsin Brief Pain Questionnaire (WBPQ) has been used to quantify pain severity and pain interference with daily functions.

Objectives: To translate the WBPQ for use with Brazilian patients and to evaluate the psychometric properties of the adaptation.

Brow motility in mitochondrial myopathy.

Purpose: To quantify the range of brow excursion in patients with mitochondrial myopathy and chronic progressive external ophthalmoplegia (CPEO).

Methods: Comparative case series. Digital image processing techniques were used to quantify the upper eyelid resting position, brow excursion, and monocular eye movements (ductions) in 19 patients with mitochondrial myopathy and CPEO and in 27 healthy control subjects.

[Validation of the EK functional motor scale in the Portuguese language].

Objective: To validate a Portuguese version of the EK scale (Egen Klassifikation), that was developed in Denmark for patients with Duchenne muscular dystrophy, and spinal muscular atrophy.

Methods: An English version of the EK scale was translated into the Portuguese language as spoken in Brazil. This scale was applied to 26 male patients (mean age = 12.