From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease
| Autor: | Stefen Brady, Andrea Beggs, Janice L. Holton, C. Ellerton, J. Pattni, Renata S Scalco, R. Godfrey, S. Chatfield, A. Wakelin, Ros Quinlivan |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Time Factors Second wind medicine.medical_treatment Biopsy exercise test Exercise intolerance 12 minute walk test Walking Support group lcsh:RC321-571 Heart Rate teste do exercício doença de McArdle medicine media_common.cataloged_instance Glycogen storage disease Humans European union Muscular dystrophy Diagnostic Errors glycogen storage disease type V lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Myositis media_common business.industry McArdle Disease fenomeno de second wind Middle Aged doença de depósito do glicogênio tipo V medicine.disease teste 12 minutos de marcha Neurology Family medicine Exercise Test Glycogen Storage Disease Type V Neurology (clinical) medicine.symptom second wind phenomenon business Neuroscience Glycogen storage disease type V |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 72, Iss 7, Pp 538-541 (2014) Arquivos de Neuro-Psiquiatria, Volume: 72, Issue: 7, Pages: 538-541, Published: JUL 2014 Arquivos de Neuro-Psiquiatria v.72 n.7 2014 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO |
| ISSN: | 1678-4227 |
| Popis: | McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to ‘growing pains’ and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test. A doença de McArdle é o tipo mais frequente das glicogenoses. A apresentação clínica característica na infância inclui mialgia e intolerância aos esforços/exercício físico. Frequentemente, os sinais e sintomas das crianças não são considerados devidamente, sendo muitas vezes interpretados como “dores do crescimento”, retardando o diagnóstico. Erros diagnósticos não são raros uma vez que outras doenças, como distrofia muscular ou canalopatias musculares, podem apresentar sintomas semelhantes. Entretanto, um simples teste de exercício físico realizado no ambulatório/consultório médico pode ajudar a identificar estes pacientes pois evidencia o fenômeno second wind, patognomônico da doença de McArdle. Aqui é descrito um relato de caso de um paciente ilustrando o valor do simples 12 minutes walk test. |
| Databáze: | OpenAIRE |
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