ABSTRACT
Hereditary muscular diseases are rare disorders, due to a genetic defect that causes an alteration in the structure or function of the muscle fibers. They may present at any stage of life and their definitive diagnosis usually requires muscle biopsy. While the most frequent hereditary myopathies have a relatively characteristic clinical presentation, there is a substantial part thereof in which the symptoms are non-specific and the definitive diagnosis may take a long time. Magnetic Resonance Imaging (MRI) has earned a place in the diagnostic process of this last group of myopathies, confirming the presence of muscle involvement and raising diagnostic approaches based on its distribution, information that guides the immunohistochemical and/or genetic study necessary for the definitive diagnosis. In this article we review the basic study protocols with MRI of the myopathies and their interpretation, also showing some cases of these diseases.
Las enfermedades musculares hereditarias son patologías raras, debidas a un defecto genético que causa una alteración en la estructura o funcionamiento de las fibras musculares. Pueden debutar en cualquier etapa de la vida y su diagnóstico definitivo suele requerir de biopsia muscular. Si bien las miopatías hereditarias más frecuentes tienen una presentación clínica relativamente característica, existe una parte importante de ellas en que los síntomas son poco específicos y su diagnóstico definitivo puede tomar largo tiempo. La Resonancia Magnética (RM) ha ganado un espacio en el proceso diagnóstico de este último grupo de miopatías, confirmando la presencia del compromiso muscular y planteando aproximaciones diagnósticas en base a su distribución, información que acota el estudio inmunohistoquímico y/o genético necesario para el diagnóstico definitivo.En el presente artículo revisaremos los protocolos de estudio básico con RM de las miopatías y su interpretación, mostrando también algunos casos de estas enfermedades.
Subject(s)
Humans , Child , Muscular Diseases/congenital , Muscular Diseases/diagnosis , Magnetic Resonance ImagingABSTRACT
Centronuclear myopathy (CNM), an uncommon condition, is one of the congenital myopathies. It is believed to arise as a result of maturational arrest, with persistence of myotubes postnatally. However, denervation being the basic disease process and its possible influence on central nervous system causing defect in nuclear migration has also been postulated. Keeping in view these existing controversies, we have studied 17 cases of CNM (neonatal - 1, childhood - 13, adulthood - 3) during the last twelve and a half years. Diagnosis was based on histological and enzyme histochemical findings of muscle biopsy along with clinical data. Ultrastructural characterstics of muscle have been studied in 10 cases. The affected muscle fibres showed a central nucleus (40-99%) with perinuclear halo. Type I fibre predominance with hypoplasia was consistently seen. Fibre type disproportion was noticed in 7 cases. The neonatal form revealed dense oxidative enzyme reaction product in the centre. The morphological features of CNM were compared with foetal skeletal muscles obtained at gestational ages ranging from 9 weeks - 36 weeks (n = 18). In the severe neonatal form th myofibres resembled the foetal myotubes. In the less severe childhood and adult form of CNM, aberrant organization of cytoskeletal network might have played a pathogenetic role in causing the disease.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Infant , Muscle, Skeletal/pathology , Muscular Diseases/congenital , PregnancyABSTRACT
A fim de definir critérios que permitam estabelecer, precocemente, o prognóstico de crianças afetadas por DMC - forma clássica ou ocidental e assim, o impacto da doença em sua qualidade de vida, foram revistos os dados de 14 pacientes atendidos na unidade de Brasília da Rede Sarah de Hospitais do Aparelho Locomotor. Todos tiveram o diagnóstico confirmado por avaliação clínica, eletromiografia, dosagem de CPK e características distróficas na biopsia muscular. Aos achados - considerados potencialmente preditivos - oriundos da avaliação físico-funcional, foram acrescidas informações obtidas da investigação por RNM, de estudos eletrofisiológicos, e da pesquisa imuno-histoquímica da merosina nas biópsias musculares. O que definiu o grupo de nove pacientes de mau prognóstico motor na avaliação físico-funcional, foi o grau de fraqueza muscular impossibilitando a aquisição de certas habilidades como, equilíbrio de cabeça em prono e supino, mudança de decúbito, engatinhar ou ficar de joelhos, habilidades estas que normalmente precedem a aquisição da marcha.[...]É enfatizada a importância da associação dos diferentes métodos de investigação-dados clínicos, ressonância nuclear magnética cerebral, estudos eletrofisiológicos, imuno-histoquímicos e moleculares-possibilitando a predição correta do fenótipo e melhor definição de subgrupos na forma clássica da DM
Subject(s)
Humans , Child , Child Development , Muscular Diseases/congenital , Muscular Dystrophies/congenital , Phenotype , BrazilABSTRACT
La Desproporción Congénita del Tipo de Fibra Muscular (DCTFM) es una miopatía congénita cuyo patrón histopatológico se caracteriza, como principal alteración demostrable, por el menor diámetro de las fibras tipo I con respecto al tamaño de las fibras tipo II. Clínicamente se presenta, al igual que otras miopatías congénitas, por hipotonía presente en la mayoría de los casos desde el nacimiento y retraso en la adquisición de las conductas motoras. La evolución puede ser benigna, para estabilizarse o mejorar con el desarrollo, o ser causa de muerte en la infancia. En este trabajo se presentan los dos primeros casos de DCTFM diagnosticados en nuestro medio. Se destaca que en las miopatías congénitas la presentación clínica es similar y que las diferentes entidades se definen exclusivamente por los hallazgos histopatológicos, si bien los mismos dependen del procesamiento selectivo de la biopsia muscular por un equipo especializado
Subject(s)
Humans , Male , Female , Child, Preschool , Muscle Fibers, Skeletal/pathology , Muscular Diseases/congenital , Muscular Diseases/pathology , Biopsy , Muscular Diseases/diagnosisABSTRACT
Os autores apresentam dois casos de ausência congênita do reto inferior, tratados pelo deslocamento vertical dos retos horizontais (cirurgia de Knapp invertida).
Subject(s)
Humans , Male , Child , Eye Abnormalities , Oculomotor Muscles/surgery , Muscular Diseases/surgery , Muscular Diseases/congenitalABSTRACT
Sao apresentados três casos de uma mesma família. portadores de osteólise idiopática com padrao de herança do tipo dominante autossômico e expressividade variável. Fazem-se comentários sobre os vários tipos de osteólises conhecidos e de outras afecçoes do esqueleto que devem entrar no diganóstico diferencial. Um dos pacientes. devido à gravidade do acomentimento nos quadris, necessitou de ressecçao das cabeças femorais. É descrito o resultado anatomopatológico das peças removidas.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Muscular Diseases/congenital , Torticollis/congenital , Treatment Outcome , Muscular Diseases/surgery , Muscular Diseases/rehabilitation , Torticollis/rehabilitation , Torticollis/surgeryABSTRACT
Central core disease is a rare congenital myopathy characterized by the formation of cores that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.
Subject(s)
Child, Preschool , Female , Humans , Microscopy, Electron , Muscles/pathology , Muscular Diseases/congenitalABSTRACT
Os autores apresentam o caso de uma menina de cinco meses de idade com retardo acentuado do desenvolvimento neuromotor, tetraparesia flacida, hiporreflexia e semiptose palpebral bilateral, cuja biopsia muscular demonstrou grande numero de fibras com nucleos centrais, permitindo o diagnostico de miopatia centronuclear (miotubular). Sao analisadas e discutidas a dificuldade de caracterizacao histologica e a variabilidade do quadro clinico deste tipo de miopatia que admite formas de diferente gravidade.
Subject(s)
Infant , Humans , Female , Muscular Diseases/pathology , Muscles/pathology , Biopsy , Muscular Diseases/congenital , Muscular Diseases/rehabilitation , Muscle Hypotonia , Physical Therapy SpecialtyABSTRACT
The reflexlocomotion acc. to VOJTA is a neurophysiologic facilitation system for the whole CNS and neuromuscular apparatus. It consists of all components, in a reciprocal manner of locomotion: (i) automatic control of posture, (ii) uprighting, (iii) aimed movements. Consequently the indications for this type of kinesiologic facilitation are really extensive. In this article the following complete list of indications is described: CCD (central coordination disorder), CP (cerebral palsy), peripheral paresis, Spina bifida (MMC), Myopathies, congenital malformations, orthopaedic problems, traumatic cross sections, neuromuscular dysfunctions etc. Further the experiences of the treatment in each disease are discussed. Even EMG-detections have shown the effect of the therapy in peripheral and central damage. Therefore a good prognosis for improvement and rehabilitation can be given in a large number of disorders, irrespective of age.
Subject(s)
Adolescent , Adult , Brain Diseases/rehabilitation , Central Nervous System Diseases/rehabilitation , Child , Child, Preschool , Down Syndrome/rehabilitation , Humans , Infant , Joint Diseases/rehabilitation , Movement Disorders/rehabilitation , Muscular Diseases/congenital , Neurophysiology , Paralysis/rehabilitation , Physical Therapy Modalities/methods , Prognosis , Spinal Dysraphism/rehabilitation , Torticollis/rehabilitationABSTRACT
All the diagnostic muscle biopsy cases were collected from the file of Department of Pathology, Seoul National University Hospital during June 1976 to December 1978. Slides were reviewed and correlated with clinical informations. Two hundred seventy four cases showed pathological changes, which were classified into six large groups (Table 1). Neurogenic atrophy was most common, 97 cases (35%), including 71 cases of motor neuron disease and 22 cases of peripheral neuropathy. Muscular dystrophy was seen in 92 cases (34%), and Duchenne type was the commonest among them (51 cases). Fifty seven cases showed inflammatory myopathy, making 20% of all cases. There were four cases of congenital myopathy and 13 cases showed various muscle diseases.
Subject(s)
Adult , Aged , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Korea , Motor Neurons/pathology , Muscular Diseases/congenital , Muscular Dystrophies/epidemiology , Neuromuscular Diseases/epidemiologyABSTRACT
O valor do emprego de técnicas histoquímicas de coloraçäo em biópsias musculares para o diagnóstico diferencial das miopatias está bem estabelecido na literatura. Desde a descriçäo da miopatia congênita do tipo central-core, quando pela primeira vez uma miopatia recebeu denominaçäo baseada nas suas alteraçöes histológicas, os cortes provenientes de fragmentos incluídos em parafina perderam em muito seu significado, näo só pela falta de especialidade, mas também pela grande quantidade de artefatos que eles apresentam. A grande percentagem de biópsias musculares normais em miopatias inflamatórias (10-20%) indica metodologia insuficiente para a caracterizaçäo dos substratos anatomopatologicos. Propomos nova metodologia de biópsia para obtençäo de fragmentos musculares através da movimentaçäo lateral de dois pequenos farabeufs. Os fragmentos musculares oferecem representatividade muito maior do que aqueles estudados segundo as metodologias atualmente propostas. Foram realizadas 1.600 biópsias no Setor de Patologia Neuromuscular da Escola Paulista de Medicina em portadores de distrofias musculares, miopatias inflamatórias, amiotrofias espinhais e hipotonias neonatais. Ressaltamos a importância da biópsia muscular como exame valioso na individualizaçäo das diferentes entidades nosológicas neuromusculares, principalmente naquelas que cursam com deformidades esqueléticas e/ou retraçöes musculotendinosas, fazendo parte da rotina do ortopedista