ABSTRACT
Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion. The mean diameter of type 2 fibers (119⯵m) was significantly higher than type 1 (57⯵m) (P < 0,001) with a 72% prevalence of type 1 fibers. The patient also had progressive cardiomyopathy treated with heart transplantation. The present report expands the muscle histopathological findings related to mutations in the SPEG gene, including fiber size disproportion without central nuclei. Additionally, this report describes the first case of heart transplantation in a patient with SPEG mutations.
Subject(s)
Cardiomyopathy, Dilated/genetics , Heart Transplantation , Muscle Proteins/genetics , Mutation/genetics , Myotonia Congenita/genetics , Protein Serine-Threonine Kinases/genetics , Adolescent , Brazil , Child , Child, Preschool , Female , Homozygote , Humans , Infant , Male , Muscle, Skeletal/pathology , Myopathies, Structural, Congenital/geneticsABSTRACT
Objetivo: Avaliar o papel da fisioterapia na abordagem das doenças neuromusculares (DNM), com ênfase nos aspectos preventivos e terapêuticos da fisioterapia respiratória. Método: Revisão bibliográfica não sistemática, abrangendo os últimos vinte anos, utilizando as bases de dados MEDLINE e LILACS, através dos seguintes descritores: Doenças neuromusculares, fisioterapia, capacidade vital e insuficiência respiratória. Resultados: Os artigos pesquisados sugerem a necessidade de se estabelecer uma rotina de avaliação periódica da função respiratória a fim de se introduzir medidas fisioterapêuticas pertinentes a cada estágio da doença. O acompanhamento deve incluir provas de função pulmonar, bem como técnicas específicas de fisioterapia respiratória, a fim de se evitar complicações como insuficiência respiratória. Conclusão: O acompanhamento periódico e a introdução de medidas preventivas de fisioterapia têm contribuído para aumentar a sobrevida e melhoraria da qualidade de vida dos pacientes com doenças neuromusculares.
Objective: To assess the role of physiotherapy in approaching neuromuscular disease (NMD), with emphasis on preventive and therapeutic aspects of respiratory therapy. Methods: A nonsystematic literature review covering the past twenty years, using the databases MEDLINE and LILACS through the following descriptors: neuromuscular diseases, physical therapy, vital capacity and respiratory failure. Results: The studies reviewed show the need to establish a routine periodic evaluation of respiratory function in order to introduce physical therapy measures relevant to each stage of the disease. The monitoring should include pulmonary function tests and specific techniques of chest physiotherapy, in order to avoid complications such as respiratory failure. Conclusion: The introduction of regular monitoring and preventive physiotherapy measures have helped to increase survival and improve quality of life of patients with neuromuscular diseases.
