Assuntos
Canais de Cálcio Tipo N/genética , Ataxia Cerebelar/genética , Mutação , Adolescente , Adulto , Idoso , Sequência de Aminoácidos , Ataxia Cerebelar/patologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo Conformacional de Fita Simples , Homologia de Sequência de AminoácidosRESUMO
We report a case of rhabdomyolysis with severe generalized weakness and muscle pain after administration of ritodrine hydrochloride, in a pregnant patient without history of neuromuscular disease. Laboratory tests showed an increase of blood CK value and myoglobinuria. An electromyography was performed, revealing a typical myogenic pattern and diffuse denervation activity. Muscular biopsy allowed to rule out inflammatory and metabolic myopathy. After delivery, the patient underwent intensive rehabilitation with progressive improvement of her clinical situation, until complete recovery. Three months later, both neurological assessment and CK levels were normal. This case highlights that rhabdomyolysis has to be considered even in patient treated with ritodrine alone and without history of neuromuscular disease. Therefore, muscular symptoms and CK levels should be monitored in women treated with ritodrine for premature labour.
Assuntos
Rabdomiólise/induzido quimicamente , Ritodrina/efeitos adversos , Tocólise/efeitos adversos , Tocolíticos/efeitos adversos , Adulto , Creatina Quinase/sangue , Eletromiografia , Feminino , Humanos , Mioglobinúria , Trabalho de Parto Prematuro/tratamento farmacológico , Gravidez , Recuperação de Função Fisiológica , Rabdomiólise/fisiopatologia , Rabdomiólise/reabilitação , Ritodrina/uso terapêutico , Tocolíticos/uso terapêutico , Resultado do TratamentoRESUMO
Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency, cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency are present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r = -0.57, p<0.01), muscular disability (r = 0.46, p<0.05), intellective quotient (r = -0.58, p<0.01) and short-term memory (r= -0.59, p<0.01). Therefore, the CTG repeat number has a predictive value only in the case of some clinical manifestations, this suggesting that pathogenetic mechanisms of DM may differ depending on the tissue.