RESUMEN
INTRODUCTION: Periodic paralysis (PP) is thought to be limited to episodes of muscle weakness, but there are reports of fibromyalgia-like pain in PP. We aimed to evaluate pain and comorbid sleep, fatigue, and mood disorders in PP patients. METHODS: We administered a cross-sectional survey to PP patients at the 2019 Periodic Paralysis Conference. The survey consisted of the Brief Pain Inventory, Widespread Pain Index, Pittsburgh Sleep Quality Index, Modified Fatigue Impact Scale, and ten-question Center for Epidemiologic Studies Depression Scale (CESD-10). Descriptive statistics for PP patients were calculated and compared with earlier studies. RESULTS: Forty-four individuals with PP took the survey. Of these patients, 52.3% reported a moderate to severe interference of pain on their lives, and 45.5% met the study criteria for fibromyalgia. Patients with SCN4A mutations had higher rates of fibromyalgia than the next most prevalent gene mutation, CACNA1S. In patients with pain, there were increased rates of comorbid fatigue, depression, and poor sleep quality. DISCUSSION: Pain, akin to fibromyalgia, is a significant symptom of PP and can affect quality of life. Pain in PP was more prevalent than in the general population, at a rate comparable with other chronic neuromuscular disease groups. PP patients could benefit from a multidisciplinary approach to assess their pain, sleep, fatigue, and mood.
Asunto(s)
Fibromialgia/complicaciones , Debilidad Muscular/complicaciones , Dolor/etiología , Parálisis Periódicas Familiares/complicaciones , Adulto , Estudios Transversales , Femenino , Fibromialgia/genética , Fibromialgia/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Debilidad Muscular/genética , Debilidad Muscular/fisiopatología , Canal de Sodio Activado por Voltaje NAV1.4/genética , Dolor/genética , Dolor/fisiopatología , Parálisis Periódicas Familiares/genética , Parálisis Periódicas Familiares/fisiopatología , Calidad de VidaRESUMEN
Myotonia congenita and periodic paralyses are hereditary skeletal muscle channelopathies. In these disorders, various channel defects in the sarcolemma lead to a severely disturbed membrane excitability of the affected skeletal muscles. The clinical picture can range from severe myotonic reactions (e.g., masseter spasm, opisthotonus) to attacks of weakness and paralysis. Provided here is a short overview of the pathomechanisms behind such wide-ranging phenotypic presentations in these patients, followed by recommendations concerning the management of anesthesia in such populations.
Asunto(s)
Anestesia , Miotonía Congénita/complicaciones , Parálisis Periódicas Familiares/complicaciones , Canalopatías/fisiopatología , Humanos , Hipopotasemia/fisiopatología , Músculo Esquelético/fisiopatología , Miotonía Congénita/fisiopatología , Parálisis Periódicas Familiares/fisiopatología , Planificación de Atención al Paciente , Sarcolema/fisiologíaRESUMEN
We describe a 37-year-old man with a 4-month history of episodic muscular weakness, involving mainly lower-limbs. Hypokalemia was documented in one episode and managed with intravenous potassium chloride. Hyperthyroidism was diagnosed 4 months after onset of attacks because of mild symptoms. The patient was subsequently diagnosed as having thyrotoxic periodic paralysis associated with Graves' disease. Treatment with propranolol and methimazol was initiated and one year later he remains euthyroid and symptom free. Thyrotoxic periodic paralysis is a rare disorder, especially among Caucasians, but it should always be considered in patients with acute paralysis and hypokalemia, and thyroid function should be evaluated.
Asunto(s)
Hipertiroidismo/diagnóstico , Hipopotasemia/diagnóstico , Parálisis Periódicas Familiares/diagnóstico , Adulto , Enfermedad de Graves/complicaciones , Humanos , Hipertiroidismo/complicaciones , Hipertiroidismo/terapia , Hipopotasemia/complicaciones , Hipopotasemia/terapia , Masculino , Metimazol/administración & dosificación , Parálisis Periódicas Familiares/complicaciones , Parálisis Periódicas Familiares/terapia , Cloruro de Potasio/uso terapéutico , Propranolol/administración & dosificación , Resultado del TratamientoAsunto(s)
ADN/genética , Músculo Esquelético/metabolismo , Mutación , Parálisis Periódicas Familiares/genética , Potasio/metabolismo , Canales de Sodio/genética , Sodio/metabolismo , Adolescente , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Hiperpotasemia/etiología , Hiperpotasemia/genética , Hiperpotasemia/metabolismo , Masculino , Canal de Sodio Activado por Voltaje NAV1.4 , Parálisis Periódicas Familiares/complicaciones , Parálisis Periódicas Familiares/metabolismo , PronósticoRESUMEN
We present a 10-year-old girl who presented to our emergency services with difficulty in breathing of 2-days duration and progressive weakness of a month's duration. In a previous admission elsewhere, she had not been detected to have hyperthyroidism or electrolyte abnormalities. On admission, the child was in hypercapnic respiratory failure with tachycardia and hepatomegaly. A small goiter as well as signs of thyrotoxicosis were present. Laboratory investigations showed anemia, mildly elevated liver enzymes and serum potassium of 4.8mEq/L. Despite intubation and ventilation and other supportive management including propranolol, the patient could not be saved. Post-mortem biopsy of the thyroid showed diffuse hyperplasia of the follicles and muscles showed evidence of thyroid myopathy.
Asunto(s)
Parálisis Periódicas Familiares/complicaciones , Insuficiencia Respiratoria/complicaciones , Tirotoxicosis/complicaciones , Niño , Femenino , Humanos , Parálisis Periódicas Familiares/sangreAsunto(s)
Anestesia General , Anestésicos por Inhalación/efectos adversos , Distrofias Musculares , Fármacos Neuromusculares Despolarizantes/efectos adversos , Parálisis Periódicas Familiares , Anestesia General/efectos adversos , Anestesia General/métodos , Contraindicaciones , Humanos , Hipertermia Maligna/complicaciones , Hipertermia Maligna/genética , Hipertermia Maligna/cirugía , Hipertermia Maligna/terapia , Monitoreo Intraoperatorio , Distrofias Musculares/complicaciones , Distrofias Musculares/genética , Distrofias Musculares/cirugía , Parálisis Periódicas Familiares/complicaciones , Parálisis Periódicas Familiares/genética , Parálisis Periódicas Familiares/cirugía , Complicaciones Posoperatorias/inducido químicamente , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/prevención & control , Guías de Práctica Clínica como Asunto , Factores de Riesgo , Succinilcolina/efectos adversosRESUMEN
A 35-year-old woman with known familial hypokalaemic periodic paralysis received general anaesthesia for reduction of bilateral breast hyperplasia. Uncomplicated general anaesthesia was performed using a propofol target-controlled infusion, remifentanil infusion and bolus doses of mivacurium with neuromuscular function monitoring. Plasma potassium concentrations were controlled intermittently in the peri-operative period and supplemented to achieve normokalaemia. Despite continuous substitution, an episode of low plasma potassium concentration occurred during the recovery period; this was without any clinical signs of muscle paralysis or respiratory distress.
Asunto(s)
Anestesia General/métodos , Anestesia Intravenosa/métodos , Hipopotasemia/sangre , Parálisis Periódicas Familiares/sangre , Adulto , Analgésicos Opioides , Anestésicos Intravenosos , Femenino , Humanos , Hipopotasemia/complicaciones , Isoquinolinas , Mivacurio , Fármacos Neuromusculares no Despolarizantes , Parálisis Periódicas Familiares/complicaciones , Piperidinas , Propofol , RemifentaniloRESUMEN
A paralisia periódica tireotóxica (PPT) é caracterizada por episódio recorrentes de fraqueza muscular, de intensidade variável, associada com hiperfunçäo tireodiana, atingindo, de forma muito preferencial, jovensasiáticos do sexo masculino. É associada, via de regra, com baixos níveis séricos de potássio e, frequentemente, desencadeada por exercícios físicos e ingestäo de carboidratos. Nós descrevemos um caso da doença em um jovem brasileiro, do sexo masculino e sem ascendência asiática, que se apresentou com um episódio de paralisia muscular e sem diagnóstico prévio de hipertireodismo. Foram encontrados níveis aumentados de T3, T4 e T4 livre e o TSH estava diminuido devido a um bócio tóxico difuso. A PPT deve ser considerada no diagnóstico diferencial de todos os episódios agudos de paralisia muscular em pacientes jovens mesmo em nosso país. A determinaçäo de potássio sérico e hormônios tiroideanos auxiliam o diagnóstico. O diagnóstico preciso é importante para o tratamento antitiroideano que evita episódio subsequentes de paralisia muscular
Asunto(s)
Humanos , Masculino , Adolescente , Crisis Tiroidea/fisiopatología , Hipertiroidismo , Hipopotasemia , Parálisis Periódicas Familiares/complicaciones , Potasio/uso terapéuticoRESUMEN
A rare complication of hyperthyroidism consists of sudden diffuse muscle weakness associated with severe hypokalemia. The clinical presentation is similar in most respects to familial periodic paralysis; however, the therapies proven to be effective differ in the two syndromes. A case of thyrotoxic hypokalemic periodic paralysis is presented and the literature is reviewed.
Asunto(s)
Hipopotasemia/etiología , Parálisis Periódicas Familiares/complicaciones , Tirotoxicosis/complicaciones , Adulto , Humanos , Hipopotasemia/diagnóstico , Masculino , Parálisis Periódicas Familiares/diagnóstico , Parálisis Periódicas Familiares/fisiopatología , Factores de Riesgo , Tirotoxicosis/diagnóstico , Tirotoxicosis/fisiopatologíaAsunto(s)
Hipopotasemia/genética , Hipopotasemia/fisiopatología , Fibras Musculares Esqueléticas/fisiología , Parálisis Periódicas Familiares/genética , Parálisis Periódicas Familiares/fisiopatología , Adolescente , Sustitución de Aminoácidos/fisiología , Femenino , Humanos , Hipopotasemia/complicaciones , Mutación , Conducción Nerviosa/fisiología , Parálisis Periódicas Familiares/complicaciones , Mutación Puntual/fisiologíaAsunto(s)
Hipopotasemia/complicaciones , Hipopotasemia/diagnóstico , Parálisis Periódicas Familiares/complicaciones , Parálisis Periódicas Familiares/diagnóstico , Parálisis de los Pliegues Vocales/etiología , Adulto , Diuréticos/uso terapéutico , Disnea/etiología , Prueba de Esfuerzo , Femenino , Humanos , Hipopotasemia/sangre , Hipopotasemia/tratamiento farmacológico , Parálisis Periódicas Familiares/sangre , Parálisis Periódicas Familiares/tratamiento farmacológico , Espironolactona/uso terapéutico , Traqueotomía , Parálisis de los Pliegues Vocales/terapiaRESUMEN
Hypokalemic periodic paralysis occurring in thyrotoxicosis is rare in Caucasians and is not often highlighted as an endocrine emergency. Periodic paralysis, without familial background, manifests only in the thyrotoxic patient. Thyrotoxic periodic paralysis is a self-limiting disorder that is cured by the treatment of the underlying hyperthyroidism. We report an unusual case of acute onset weakness from thyrotoxic periodic paralysis in a young Chinese migrant who had a normal serum potassium level at the time of initial presentation, though on subsequent presentation one week later, he had the typically associated hypokalemia. We also review the literature on thyrotoxic periodic paralysis.
Asunto(s)
Parálisis Periódicas Familiares/complicaciones , Tirotoxicosis/complicaciones , Adulto , Pueblo Asiatico , China/epidemiología , Humanos , Masculino , Parálisis Periódicas Familiares/etnología , Parálisis Periódicas Familiares/fisiopatología , Pruebas de Función de la Tiroides , Tirotoxicosis/fisiopatologíaRESUMEN
Thyrotoxic periodic paralysis is a rare endocrine disorder most prevalent among individuals of Asian descent that presents as proximal muscle weakness, hypokalemia, and signs of hyperthyroidism. We present the case report of a patient with previously undiagnosed hyperthyroidism, protracted muscle weakness with transient exacerbations, and nocturnal onset of periodic paralysis affecting the upper and lower limbs.
Asunto(s)
Parálisis Periódicas Familiares/complicaciones , Tirotoxicosis/complicaciones , Adulto , Población Negra , Humanos , Jamaica , Masculino , Parálisis Periódicas Familiares/etnología , Parálisis Periódicas Familiares/fisiopatología , Parálisis Periódicas Familiares/terapia , Tirotoxicosis/fisiopatología , Tirotoxicosis/terapiaRESUMEN
Thyrotoxic periodic paralysis is a rare endocrine disorder most prevalent among individuals of Asian descent that presents as proximal muscle weakness, hypokalemia, and signs of hyperthyroidism. We present the case report of a patient with previously undiagnosed hyperthyroidism, protracted muscle weakness with transient exacerbations, and nocturnal onset of periodic paralysis affecting the upper and lower limbs (AU)