RESUMEN
Introduction: Chronic pain, nocturnal cramps, and sleep alterations are prevalent symptoms and signals in Charcot-Marie-Tooth disease patients. Sleep and pain are bidirectionally related and physical therapy can improve the binomial sleep and pain/nocturnal cramps. Therefore, we hypothesized that the application of a specific physical therapy program for Charcot-Marie-Tooth disease would improve sleep quality, pain perception, and nocturnal cramps. Material and Methods: A non-randomized controlled study that included 9 Charcot-Marie-Tooth disease patients (intervention group - physical therapy program) and 8 controls (active control group - booklet on sleep hygiene). The intervention lasted 8 weeks, three sessions per week. The effects were evaluated ten days before (baseline) and ten days after the intervention (post). Our primary outcome was sleep quality (subjective and objective, assessed by Pittsburgh sleep quality index and actigraphy, respectively); and secondary outcomes were pain perception (brief pain inventory) and nocturnal cramps (self-report). Results: The program was able to improve the subjective sleep quality (p=0.005) and nocturnal cramps (p<0.001) but had no effect on actigraphy data (p>0.05) neither on pain perception (p>0.05). Conclusion: Our initial hypothesis was partially corroborated: the improvement in subjective quality of sleep and nocturnal cramps is already beneficial for the health promotion of the volunteers in this study affected by the disease. Our findings may serve as a basis for future research to develop a program focused on the treatment of analgesia, which can improve pain perception and alter the objective quality of sleep.
RESUMEN
Introduction: Charcot-Marie-Tooth disease is an inherited neuropathy that presents two main forms - type 1 and type 2 -, differentiated by the speed of the nervous conduction. Our goal was to assess sleep in Charcot-Marie-Tooth disease and its relationship with pain perception and nocturnal cramps. Material and Methods: This was a case-control study. The case group was composed of 10 volunteers diagnosed with the type 1 and 23 with the type 2. The control group was composed of 22 individuals from the same family matched by age and gender. Volunteers underwent clinical screening to assess the presence of nocturnal cramps and filled the brief pain inventory, the Chalder fatigue scale, the Epworth sleepiness scale, and the Pittsburgh sleep quality index. Sleep was evaluated by actigraphy. Results: Type 2 patients presented a more severe perception of pain and fatigue, more time spend awake after sleep onset, and had lower sleep efficiency. The individuals who reported nocturnal cramps also had worse perception of pain, reduced sleep latency, and increased sleep fragmentation. Conclusion: The Charcot-Marie-Tooth type 2 was related with worse sleep quality, perception of pain, and fatigue and these parameters were negatively related.
RESUMEN
UNLABELLED: Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/fisiopatología , Tractos Piramidales/fisiopatología , Adolescente , Adulto , Anciano , Enfermedad de Charcot-Marie-Tooth/genética , Niño , Electromiografía/métodos , Femenino , Ligamiento Genético/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , FenotipoRESUMEN
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.
A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária de acometimento sensitivo e motor de predomínio distal. Atrofia e fraqueza em membros inferiores são os primeiros sinais da doença. Pode ser classificada, com auxílio da eletroneuromiografia, em desmielinizante (CMT1) ou axonal (CMT2). OBJETIVO: Investigação clínica e neurofisiológica de família com portadores de CMT2 de herança dominante. MÉTODO: Foi feita avaliação neurológica de 50 indivíduos e eletroneuromiografia em 22 pacientes. RESULTADOS: Trinta indivíduos tinham sinais clínicos de neuropatia sensitivo-motora. Sinal de Babinski estava presente em 14 indivíduos. A eletroneuromiografia demonstrou polineuropatia axonal sensitiva e motora. CONCLUSÃO: As características clínicas e neurofisiológicas desta família não se diferem das observadas em outras formas de CMT, exceto pela alta prevalência de sinal de Babinski.
Asunto(s)
Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Tractos Piramidales/fisiopatología , Enfermedad de Charcot-Marie-Tooth/genética , Electromiografía/métodos , Ligamiento Genético/genética , Linaje , FenotipoRESUMEN
A doença de Charcot-Marie-Tooth (CMT) caracteriza-se por comprometimento dos nervos periféricos de predomínio distal, tendo curso clínico variável. Observa-se quadro de evolução lenta de atrofia e fraqueza distal em membros inferiores, seguidos por diminuição da sensibilidade. Os reflexos estão em geral abolidos, mas podem estar exaltados e acompanhados de sinal de Babinski. É frequente o encontro de atrofia do terço distal das pernas, de pes cavos e de deformidades em artelhos. A doença de CMT pode ser classificada, com o auxílio da eletroneuromiografia, em desmielinizante (CMT1) ou axonal (CMT2). A CMT1 possui velocidade de condução motora do nervo mediano < 38 m/s e a CMT2 > 38m/s. A CMT1 é de herança autossômica dominante, e a CMT2 pode ser de herança dominante ou recessiva. A CMT2 é geneticamente heterogênea e conhecem-se até o momento 13 loci associados a essa condição, com nove genes identificados. O objetivo deste estudo é investigar do ponto de vista clínico, neurofisiológico e genético uma família com muitos portadores de CMT2. A família multigeneracional que apresenta CMT2 é procedente de Tobias Barreto, SE. Foi feita avaliação neurológica de 50 indivíduos e eletroneuromiografia em 22 pacientes. Com dados da avaliação clínica e eletroneuromiográfica foi aplicado o escore que avalia a gravidade da doença, o CMTNS. Para o estudo genético, foram coletadas 42 amostras de sangue de indivíduos afetados e de familiares não afetados. Entre os 50 indivíduos avaliados, 30 tinham sinais clínicos de neuropatia sensitivo-motora de predomínio distal. Paresia dos músculos distais foram os sinais clínicos mais precoces. Redução da sensibilidade superficial e profunda foi detectada nos segmentos distais. O sinal de Babinski estava presente em 14 indivíduos. A eletroneuromiografia demonstrou alterações compatíveis com polineuropatia axonal sensitiva e motora. O estudo genético demonstrou que, nesta família, CMT2 não está ligada a nenhum dos loci já conhecidos...
Charcot-Marie-Tooth (CMT) disease is characterized by predominantly distal peripheral neuropathy with variable clinical course. Initial presentation is of a slowly progressive distal atrophy and weakness in lower limbs, followed by sensory compromise. Reflexes are usually abolished, but might be brisk and accompanied by Babinski sign. It is frequent to find distal atrophy of lower limbs, pes cavus and toe deformities. Electromyography can recognize two patterns of CMT: demyelinating (CMT1), which has a conduction median nerve velocity < 38 m/s and axonal (CMT2), with velocity > 38m/s. CMT1 is inherited as an autosomal dominant trait, and CMT2 might be transmitted as an autosomal dominant or recessive. CMT is genetically heterogeneous, and, up to now, 13 loci have been recognized and nine genes identified. The aim of this study was to conduct an investigation of clinical, genetics and neurophysiological investigation of a multigenerational family with several individuals with CMT2 and to characterize phenotype, neurophysiological pattern and genetic basis of this condition. Fifty individuals were clinically evaluated and nerve conduction velocity studies and distal muscular activity in lower limbs using concentric needle were performed in 22 patients. A blood sample was collect from 42 individuals, in order to perform linkage analysis. Thirty, among the 50 evaluated individuals, had clinical signs of predominantely distal sensory motor neuropathy. Distal muscle paresis was an early clinical sign. Reduction of superficial and deep sensory was detected distally. Babinski sign was present in 14 affected individuals. Neurophysiological study was characteristic of axonal sensory-motor neuropathy. Linkage analysis demonstrated that in this family, CMT2 was not linked to any already known loci for this condition, but the responsible gene locus was not identified so far. In conclusion, clinical and neurophysiological characteristics of this family did not differ...