1. Introdução Nos últimos anos, foram consolidados avanços expressivos no conhecimento de amiloidose cardíaca (AC), trazendo uma profunda reformulação do seu significado clínico. Além de haver evidências convincentes de que AC seja uma causa relativamente comum de insuficiência cardíaca com fração de ejeção preservada (ICFEP), assistimos o surgimento de terapias específicas modificadoras do curso natural da doença, capazes de prolongar a sobrevida dos pacientes acometidos. Em paralelo, relevantes progressos nas técnicas de imagem cardiovascular têm contribuído grandemente para o reconhecimento [...] 1. Introdução Nos últimos anos, foram consolidados avanços expressivos no conhecimento de amiloidose cardíaca (AC), trazendo uma profunda reformulação do seu significado clínico. Além de haver evidências convincentes de que AC seja uma causa relativamente comum de insuficiência cardíaca com fração de ejeção preservada (ICFEP), assistimos o surgimento de terapias específicas modificadoras do curso natural da doença, capazes de prolongar a sobrevida dos pacientes acometidos. Em paralelo, relevantes progressos nas técnicas de imagem cardiovascular têm contribuído grandemente para o reconhecimento

The objective of this study was to determine the diagnostic accuracy of ultrasound and electromyography for the detection of fasciculation in patients with amyotrophic lateral sclerosis and to compare detection rates between the two methods. By searching the Cochrane Library, MEDLINE, Excerpta Medica, and Latin-American and Caribbean Health Sciences Literature databases, we identified studies evaluating the diagnostic accuracy and fasciculation detection rates of ultrasound and electromyography. The Quality Assessment of Diagnostic Accuracy Studies, version 2, and RTI item bank tools were used for the evaluation of methodological quality. Ultrasound, for 10 s or 30 s, had a higher detection rate than did electromyography in all muscles evaluated. The overall detection rate (in patients) did not differ significantly between ultrasound for 10 s and ultrasound for 30 s. The accuracy of ultrasound for 10 s was 70% in muscles and 85% in patients. The accuracy of ultrasound for 30 s was 82% in patients. Ultrasound provided detection rates superior to those achieved with electromyography, independent of the examination time and muscles evaluated.

The early stages of motor function decline in DMD are already well known, including loss of walking ability, which occurs on average at nine years of age in men⁵. However, in symptomatic female carriers, that information is poorly described in the literature, as well as the analysis of the performance in functional tasks. Rather, several studies characterize the cardiac symptomatology in female carriers of DMD^3,4,6, and few report muscle disorders^7,8.

Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

Amyotrophic Lateral Sclerosis (ALS) is a rapid progressive neurodegenerative disease, characterized by a selective loss of motor neurons, brain stem and spinal cord which leads to deterioration of motor abilities. Devices that promote interaction with tasks on computers can enhance performance and lead to greater independence and utilization of technology. To evaluate performance on a computer task in individuals with ALS using three different commonly used non-immersive devices. Thirty individuals with ALS (18 men and 12 women, mean age 59 years, range 44–74 years) with a mean score of 26, (minimum score of 14 and maximum 41) on the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) and 30 healthy controls matched for age and gender, participated. All participants were randomly divided into three groups, each using a different device system (motion tracking, finger motion control or touchscreen) to perform three task phases (acquisition, retention and transfer). Both the ALS and control group (CG) showed better performance on the computer task when using the touchscreen device, but there was limited transfer of performance onto the task performed on the Finger Motion control or motion tracking. However, we found that using the motion tracking device led to transfer of performance to the touchscreen. This study presents novel and important findings when selecting interaction devices for individuals with ALS to access technology by demonstrating immediate performance benefits of using a touchscreen device, such as improvement of motor skills. There were possible transferable skills obtained when using virtual systems which may allow flexibility and enable individuals to maintain performance overtime. Registration name: Virtual Task in Amyotrophic Lateral Sclerosis; Registration number: NCT03113630 ; retrospectively registered on 04/13/2017. Date of enrolment of the first participant to the trial: 02/02/2016.