Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for RYR1 variants using Next-Generation Sequencing (NGS). We analyzed 27 patients from 19 unrelated families: four families (11 patients) with autosomal dominant inheritance (AD), two families (3 patients) with autosomal recessive (AR), and 13 sporadic cases. Biallelic RYR1 variants were found in six families (two AR and four sporadic cases) of the 14 molecularly analyzed families (~43%), suggesting a higher frequency of AR inheritance than expected. None of these cases presented a severe phenotype. Facial weakness was more common in biallelic than in monoallelic patients (p = 0.0043) and might be a marker for AR forms. NGS is highly effective for the identification of RYR1 variants in CCD patients, allowing the discovery of a higher proportion of AR cases with biallelic mutations. These data have important implications for the genetic counseling of the families.

Rehabilitation for motor functional neurological disorder: a follow-up study of 185 patients.

BACKGROUND: Motor functional neurological disorder (mFND) is a common and disabling condition. There are no evidence-based guidelines for treatment. Long-term outcome is often poor. This study describes the epidemiological profile, symptom pattern and outcome of patients admitted to the Belo Horizonte unit of the SARAH Network of Rehabilitation Hospitals from 1997 to 2018 with functional motor symptoms resulting from functional neurological disorder. METHODS: This retrospective study reviewed data from 185 patients who met inclusion criteria for mFND. Diagnoses were made by multiple professionals in the presence of positive signs and excluding other neurological and systemic conditions. RESULTS: 75.1% were women; 48.3% were receiving social security benefits. The youngest was 3 years old, the oldest 69. 23.8% were in wheelchairs, 77.2% had psychiatric disorders, 69.7% participated in rehabilitation programs and, among them, 70% improved. CONCLUSION: Participation in rehabilitation is beneficial for patients with mFND. Symptoms lasting for less than 30 days and aged less than 18 years had better outcomes (p<0.001).

Rehabilitation for motor functional neurological disorder: a follow-up study of 185 patients / Reabilitação para transtorno neurológico funcional motor: um estudo de acompanhamento de 185 casos

ABSTRACT Background: Motor functional neurological disorder (mFND) is a common and disabling condition. There are no evidence-based guidelines for treatment. Long-term outcome is often poor. This study describes the epidemiological profile, symptom pattern and outcome of patients admitted to the Belo Horizonte unit of the SARAH Network of Rehabilitation Hospitals from 1997 to 2018 with functional motor symptoms resulting from functional neurological disorder. Methods: This retrospective study reviewed data from 185 patients who met inclusion criteria for mFND. Diagnoses were made by multiple professionals in the presence of positive signs and excluding other neurological and systemic conditions. Results: 75.1% were women; 48.3% were receiving social security benefits. The youngest was 3 years old, the oldest 69. 23.8% were in wheelchairs, 77.2% had psychiatric disorders, 69.7% participated in rehabilitation programs and, among them, 70% improved. Conclusion: Participation in rehabilitation is beneficial for patients with mFND. Symptoms lasting for less than 30 days and aged less than 18 years had better outcomes (p<0.001).

RESUMO Introdução: Alterações motoras decorrentes de Transtorno Neurológico Funcional (TNF) são comuns, incapacitantes e com prognóstico ruim. Não há protocolos de tratamento baseado em evidências. Esse estudo descreve o perfil epidemiológico, os sintomas e a evolução de pacientes com alterações motoras decorrentes de Transtorno Neurológico Funcional (TNF) admitidos na unidade de Belo Horizonte da Rede SARAH de Hospitais de Reabilitação no período de 1997 a 2018. Métodos: Este estudo retrospectivo analisou dados de 185 pacientes que atenderam aos critérios de inclusão para TNF. Os diagnósticos foram realizados por múltiplos profissionais considerando a presença de sinais positivos e a exclusão de outras condições neurológicas e sistêmicas. Resultados: 75,1% eram mulheres; 48,3% estavam recebendo benefícios previdenciários. O indivíduo mais jovem tinha 3 anos de idade, e o mais velho, 69 anos. 23,8% usavam cadeira de rodas, 77,2% apresentavam desordens psiquiátricas, 69,7% tinham participado do programa de reabilitação e, dentre esses, 70% apresentaram melhora dos sintomas. Conclusão: O processo de reabilitação é benéfico para pacientes com TNF. Pacientes menores de 18 anos de idade e com sintomas de evolução com duração inferior a 30 dias apresentaram melhores resultados no tratamento (p<0,001).