RESUMEN
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). CONCLUSION: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.
Asunto(s)
Enfermedades Neuromusculares/diagnóstico , Biopsia , Femenino , Humanos , Masculino , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/patología , Estudios RetrospectivosRESUMEN
ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.
RESUMO O procedimento diagnóstico neuromuscular é complexo. O conhecimento da frequência relativa das doenças neuromusculares em uma população é importante para utilização dos testes diagnósticos mais apropriados. Objetivo: Relatar a frequência relativa de doenças neuromusculares em um centro de referência. Métodos: Revisão de prontuários de pacientes com suspeita de miopatia em 17 anos. Resultados: Dentre 3412 exames, 1603 (46,98%) foram confirmatórios: 782 (48,78%) estudos moleculares e 821 (51,21%) biópsias musculares. Os diagnósticos mais frequentes foram: distrofinopatia 460 (28,70%), mitocondriopatia 330 (20.59%), atrofia muscular espinhal 158 (9,86%), distrofia muscular cintura-membros 157 (9,79%), distrofia miotônica de Steinert 138 (8,61%), distrofia muscular face-escápulo-umeral 99 (6,17%) e outros diagnósticos 261 (16,28%). Conclusão: Utilizando as técnicas diagnósticas atualmente disponíveis em nosso serviço, o diagnóstico específico do subtipo de distrofia muscular cintura-membros foi obtido em 61% dos pacientes. O diagnóstico neuromuscular apropriado é importante para o aconselhamento genético, orientações de reabilitação e tratamento precoce de complicações respiratórias e cardíacas.
Asunto(s)
Humanos , Masculino , Femenino , Enfermedades Neuromusculares/diagnóstico , Biopsia , Estudios Retrospectivos , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/patologíaRESUMEN
BACKGROUND: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives. We aimed to describe the phenotypic variability in a series of molecular-confirmed female dystrophinopathy patients. METHODS: This is a retrospective analysis of medical records from 1997 to 2015. RESULTS: Ten female dystrophinopathy patients were selected, two with unusual phenotypes: one with early joint contractures muscular dystrophy and the other with very late onset myopathy. Muscle imaging studies demonstrated predominant asymmetric fat replacement. Muscle biopsy immunohistochemistry demonstrated clear mosaic pattern in two cases and only subtle reduction of dystrophin intensity in three. CONCLUSIONS: Adequate diagnosis is fundamental for genetic counseling and cardiologic follow-up. Female patients with dystrophinopathy may present unusual phenotypes such as early contractures and very late onset myopathy.
Asunto(s)
Distrofina/genética , Heterocigoto , Distrofias Musculares/diagnóstico por imagen , Distrofias Musculares/genética , Fenotipo , Adolescente , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
BACKGROUND: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials. CASE PRESENTATION: Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene. CONCLUSION: This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.
RESUMEN
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.
Asunto(s)
Distrofia Muscular de Cinturas/diagnóstico , Biopsia , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Ilustración Médica , Músculos/diagnóstico por imagen , Músculos/patología , Distrofia Muscular de Cinturas/genética , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.
As distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.
Asunto(s)
Femenino , Humanos , Masculino , Distrofia Muscular de Cinturas/diagnóstico , Biopsia , Diagnóstico Diferencial , Ilustración Médica , Músculos/patología , Músculos , Distrofia Muscular de Cinturas/genética , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: To determine if there are evidences of a causal relation between patent foramen ovale (PFO) x cryptogenic ischemic stroke (IS) in the young population and to analyze this relation in terms of causal criteria. METHODS: A total of 168 young patients with IS was retrospectively evaluated and divided into two groups: cryptogenic and with a defined cause. As a routine procedure, the patients underwent investigation of the PFO by means of transesophageal echocardiogram and/or transcranial Doppler sonography, both of them associated with the bubble test. Multivariate analysis was performed after demonstration of univariate statistical association between PFO x IS. RESULTS: After multivariate analysis, the association between PFO x cryptogenic IS was still statistically significant with odds ratio (adjusted OR = 3.3; 95% CI: 1.5-7.4). The total number of cerebral lesions also presented a significant association with cryptogenic IS (adjusted OR = 0.4; 95% CI: 0.2-0.9). The association between PFO and cryptogenic IS met all the causality criteria. CONCLUSION: The causal relation between PFO and cryptogenic IS in the young population is highly probable. This fact should be considered in the therapeutic decision.
Asunto(s)
Foramen Oval Permeable/complicaciones , Accidente Cerebrovascular/etiología , Adolescente , Adulto , Femenino , Foramen Oval Permeable/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJETIVOS: Determinar se há evidências de uma relação causal entre forame oval patente (FOP) e acidente vascular cerebral isquêmico (AVCI) criptogênico em jovens. Analisar essa relação à luz dos critérios de causalidade. MÉTODOS: Avaliaram-se, retrospectivamente, 168 pacientes jovens com AVCI, divididos em dois grupos: criptogênico e de causa definida. Como parte da rotina, os pacientes foram submetidos a pesquisa de FOP por ecocardiograma transesofágico e/ou Doppler transcraniano, ambos associados ao teste de bolhas. Demonstrada a associação estatística univariada entre FOP e AVCI, procedeu-se a análise multivariada. RESULTADOS: Após análise multivariada, a associação FOP e AVCI criptogênico mostrou-se ainda estatisticamente significante, com razão de chance (RCajustada de 3,3 (IC95 por cento 1,5-7,4). O número total de lesões no encéfalo também apresentou associação significativa com o AVCI criptogênico (RCajustada= 0,4 IC95 por cento 0,2-0,9). A associação FOP e AVCI criptogênico satisfez todos os critérios de causalidade. CONCLUSÃO: A relação causal entre o FOP e o AVCI criptogênico em jovens é altamente provável. Esse fato deve ser considerado na decisão terapêutica.
OBJECTIVES: To determine if there are evidences of a causal relation between patent foramen ovale (PFO) x cryptogenic ischemic stroke (IS) in the young population and to analyze this relation in terms of causal criteria. METHODS: A total of 168 young patients with IS was retrospectively evaluated and divided into two groups: cryptogenic and with a defined cause. As a routine procedure, the patients underwent investigation of the PFO by means of transesophageal echocardiogram and/or transcranial Doppler sonography, both of them associated with the bubble test. Multivariate analysis was performed after demonstration of univariate statistical association between PFO x IS. RESULTS: After multivariate analysis, the association between PFO x cryptogenic IS was still statistically significant with odds ratio (adjusted OR = 3.3; 95 percent CI: 1.5-7.4). The total number of cerebral lesions also presented a significant association with cryptogenic IS (adjusted OR = 0.4; 95 percent CI: 0.2-0.9). The association between PFO and cryptogenic IS met all the causality criteria. CONCLUSION: The causal relation between PFO and cryptogenic IS in the young population is highly probable. This fact should be considered in the therapeutic decision.
Asunto(s)
Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Foramen Oval Permeable/complicaciones , Accidente Cerebrovascular/etiología , Foramen Oval Permeable/diagnóstico , Análisis Multivariante , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Estima-se que 40 por cento dos acidentes vasculares cerebrais isquêmicos (AVC) sejam classificados como criptogênicos. Essa cifra costuma ser maior nos pacientes jovens. A embolia paradoxal, cujo forame oval patente (FOP) é o principal exemplo, pode ser responsável por uma parcela desses casos. Entre janeiro de 2004 e novembro de 2004, 168 pacientes com diagnóstico de AVCI, entre 15 e 45 anos de idade, admitidos em unidades da Rede Sarah de hospitais foram admitidos, além da avaliação de rotina, a pesquisa de FOP com ecodopplercardiograma transesofágico e/ou Doppler transcraniano, ambos associados ao teste de bolhas.Usando a combinação dos dois métodos a prevalência da FOP em toda a amostra foi de 28 por cento (IC95 por cento 21,3-35,4).Nos pacientes com AVCI criptogênico essa prevalência sobe para 40 por cento e no grupo com etiologia definida foi de apenas 15 por cento, configurando uma razão de chances de 3,7 (IC 95 por cento 1,8-7,9). Esses resultados apontam para a necessidade de se considerar a possibilidade de embolia paradoxal na etiologia do AVCI criptogênico em pacientes jovens.
Asunto(s)
Adulto , Masculino , Femenino , Humanos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/mortalidad , Defectos del Tabique Interatrial/complicaciones , Ecocardiografía Transesofágica/métodos , Tabiques Cardíacos/anatomía & histología , Ultrasonografía Doppler TranscranealRESUMEN
BACKGROUND AND PURPOSE: We sought to examine ischemic stroke subtypes and prevalence of thrombophilia in Brazilian stroke patients. METHOD: A total of 130 consecutive young and 200 elderly stroke patients were studied. RESULTS: Prevalence of thrombophilia was, respectively: protein S deficiency (11.5% versus 5.5%), protein C deficiency (0.76% versus 1%), resistance to activated protein C (2.3% versus 3.5%), mutation in V Leiden factor (1.5% versus 2%), antithrombin III deficiency (0% versus 0%), lupus anticoagulant (0% versus 0.5%), anticardiolipin antibodies (3% versus 10%; P=0.01), hyperhomocysteinemia (31.5% versus 53.5%; P=0.0001), mutation of the MTHFR gene in homocigosis (10% versus 5%), and heterocigosis (27.6% versus 41.9%; P=0.01). CONCLUSIONS: Prothrombotic conditions were more frequent in stroke of undetermined cause.