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.

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

Background: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues.

Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.

Objectives: Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder form) and Ullrich congenital muscular dystrophy (UCMD, more severe form), with many patients presenting an intermediate phenotype. In this work, we present clinical and genetic data from 28 patients (27 families), aged 6-38 years (mean of 16.

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Unlabelled: Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.

Objective: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.

Method: We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.

Clinical aspects of patients with sarcoglycanopathies under steroids therapy.

Unlabelled: Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available.

Objective: To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year.

Method: Patient files were retrospectively analyzed for steroid use.

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Background: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype.

Methods: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene.

Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.