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Abstract(s)
A Esclerose Lateral Amiotrófica (ELA) é uma doença neurodegenerativa, com uma sobrevida curta, que afeta progressivamente os neurónios motores superiores e inferiores do córtex, tronco cerebral e medula espinhal. Manifesta-se por fraqueza muscular, cãibras, fasciculações, disfagia, disartria, insuficiência respiratória e em alguns pacientes por alterações cognitivas. O riluzol foi o único fármaco que demostrou diminuição ligeira na progressão da doença, devendo ser iniciado precocemente. A restante terapêutica, limitada ao tratamento sintomático e preventivo e á educação do paciente e dos cuidadores, visa a melhoria ou manutenção da qualidade de vida do paciente, dos cuidadores e da família, estando recomendado o seguimento regular por equipa multidisciplinar. O caso clínico apresentado, relata um paciente de 72 anos, sexo masculino, referenciado à consulta de Medicina Física e Reabilitação (MFR) em Junho de 2016, com queixas de cansaço, ortopneia e dispneia de instalação progressiva nos últimos 24 meses. Posteriormente com cãibras e fasciculações nos membros superiores e inferiores, objetivando-se uma diminuição ligeira da força muscular, respiração paradoxal e superficial, com utilização do músculo esterno-cleido-mastóideo. A investigação prévia realizada no Hospital da área de residência, admitido em Janeiro e Fevereiro de 2016 por pneumonia, revelou insuficiência respiratória global e apneia do sono grave, com necessidade de terapêutica com CPAP. Com base nas alterações neurológicas e no resultado da eletromiografia em Junho 2016, foi-lhe diagnosticado ELA com severo compromisso respiratório, optando-se por iniciar ventilação não-invasiva com BiPAP. A manifestação inicial de sintomas respiratórios é rara e foi durante muito tempo considerada como um fator negativo no prognóstico. Porém, a introdução da ventilação não-invasiva modificou a evolução negativa deste caso, em linha com o descrito na literatura por Shoesmith et al., 2006 e de Carvalho et al., 1996. O caso clínico mostra um inequívoco benefício na sobrevida e na funcionalidade e revela o benefício dum seguimento regular multidisciplinar, que inclua a MFR, para controlo dos parâmetros ventilatórios associado a um programa de fisioterapia integral, que considere ajudas técnicas/produtos de apoio, com igual importância e a par, com os clássicos programas de exercícios de flexibilização e fortalecimento muscular moderado.
Amyotrophic Lateral Sclerosis (ALS) is fatal neurodegenerative disease, with a short survival, that progressively affects upper and lower motor neurons in the cortex, brainstem and spinal cord. It is manifested by progressive muscle weakness, cramps, fasciculations, dysphagia, dysarthria, respiratory failure and in some patients by cognitive dysfunctions. Riluzole is the only drug that showed a slight decrease in disease progression and should be started early. The remaining therapy is limited to symptomatic and preventive treatment and education of patients and caregivers, aims to improve or maintain the quality of life of patients, caregivers and the family. Regular follow-up by a multidisciplinary team is recommended. This work reports a 72-year-old man referred to Physical and Rehabilitation Medicine (PRM) in June 2016, with complaints of fatigue, orthopnea and progressive dyspnea in the last 24 months. Subsequently with cramps and fasciculations in the upper and lower limbs, which showed at physical examination a moderate decrease in muscular strength, paradoxical and superficial respiration using sternocleidomastoid muscle. During the investigation, he was diagnosed with global respiratory failure and severe sleep apnea needing therapy with CPAP. Based on neurological abnormalities and electromyography results in June 2016, he was diagnosed definitive ALS with severe respiratory compromise and was adapted to non-invasive ventilation with BiPAP. ALS with respiratory-onset is rare and has been considered a negative prognostic factor. However more recently, the introduction of non-invasive ventilation has shown a more favorable prognosis. The case presented showed unequivocal survival and functional benefit, being alive today with stable quality of life. Therefore, the results presented are fully in line with the previous papers by Shoesmith et al., 2006 and de Carvalho et al., 1996. ALS patients do benefit from a regular follow-up by a PRM team to adjust ventilation and begin physiotherapy, to improve walking skills and strength of the respiratory and limb muscles, with a moderate strengthening and ROM exercises.
Amyotrophic Lateral Sclerosis (ALS) is fatal neurodegenerative disease, with a short survival, that progressively affects upper and lower motor neurons in the cortex, brainstem and spinal cord. It is manifested by progressive muscle weakness, cramps, fasciculations, dysphagia, dysarthria, respiratory failure and in some patients by cognitive dysfunctions. Riluzole is the only drug that showed a slight decrease in disease progression and should be started early. The remaining therapy is limited to symptomatic and preventive treatment and education of patients and caregivers, aims to improve or maintain the quality of life of patients, caregivers and the family. Regular follow-up by a multidisciplinary team is recommended. This work reports a 72-year-old man referred to Physical and Rehabilitation Medicine (PRM) in June 2016, with complaints of fatigue, orthopnea and progressive dyspnea in the last 24 months. Subsequently with cramps and fasciculations in the upper and lower limbs, which showed at physical examination a moderate decrease in muscular strength, paradoxical and superficial respiration using sternocleidomastoid muscle. During the investigation, he was diagnosed with global respiratory failure and severe sleep apnea needing therapy with CPAP. Based on neurological abnormalities and electromyography results in June 2016, he was diagnosed definitive ALS with severe respiratory compromise and was adapted to non-invasive ventilation with BiPAP. ALS with respiratory-onset is rare and has been considered a negative prognostic factor. However more recently, the introduction of non-invasive ventilation has shown a more favorable prognosis. The case presented showed unequivocal survival and functional benefit, being alive today with stable quality of life. Therefore, the results presented are fully in line with the previous papers by Shoesmith et al., 2006 and de Carvalho et al., 1996. ALS patients do benefit from a regular follow-up by a PRM team to adjust ventilation and begin physiotherapy, to improve walking skills and strength of the respiratory and limb muscles, with a moderate strengthening and ROM exercises.
Description
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Keywords
Esclerose Lateral Amiotrófica (ELA) Compromisso respiratório Ventilação não-invasiva Reabilitação Medicina física e reabilitação