Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia.

Relationship between muscle strength and motor function in Duchenne muscular dystrophy.

OBJECTIVE: To investigate the relationship between muscle strength and motor function and between these variables and age. METHOD: Muscle strength was measured by Medical Research Council (MRC) scale and motor function, by Motor Function Measure (MFM), in 40 non-ambulatory patients. Spearman tests investigated the relationships between muscle strength, motor function and age. RESULTS: Total MRC and MFM scores were strongly related to each other (r = 0.94; p < 0.001), but not to age (r = -0.19, r = -0.31, respectively; p > 0.05). Strong and moderate relationships between partial muscle strength and motor function scores were found. Higher correlation coefficients were found between total scores and Dimensions 2 (axial/ proximal control) and 3 (distal control) of MFM. CONCLUSION: Muscle strength and motor function are strongly correlated and seem to decrease proportionally in DMD.

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. In 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84% were Caucasians and 13% of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84% of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84% of the cases, but 80% were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.

Motor neuron disease and acquired axonal neuropathy association in HIV infection: case report and update.

BACKGROUND: A possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis - Syndrome, Motor Neuron Diseases and peripheral neuropathies. OBJECTIVE: To report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology. METHODS: The patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies. RESULTS AND DISCUSSION: The initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission. CONCLUSION: Motor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Relationship between muscle strength and motor function in Duchenne muscular dystrophy / Relação entre força muscular e função motora na distrofia muscular de Duchenne

ABSTRACT Measuring muscle strength and motor function is part of Duchenne muscular dystrophy (DMD) assessment. However, the relationship between these variables is controversial. Objective To investigate the relationship between muscle strength and motor function and between these variables and age. Method Muscle strength was measured by Medical Research Council (MRC) scale and motor function, by Motor Function Measure (MFM), in 40 non-ambulatory patients. Spearman tests investigated the relationships between muscle strength, motor function and age. Results Total MRC and MFM scores were strongly related to each other (r = 0.94; p < 0.001), but not to age (r = -0.19, r = -0.31, respectively; p > 0.05). Strong and moderate relationships between partial muscle strength and motor function scores were found. Higher correlation coefficients were found between total scores and Dimensions 2 (axial/ proximal control) and 3 (distal control) of MFM. Conclusion Muscle strength and motor function are strongly correlated and seem to decrease proportionally in DMD.

RESUMO Mensurar força muscular e função motora é parte da avaliação em distrofia muscular de Duchenne (DMD). A relação entre essas variáveis é controversa. Objetivo Investigar a relação entre força muscular, função motora e idade. Método Força muscular foi medida pela Medical Research Council (MRC), e função motora pela escala Medida da Função Motora (MFM), em 40 pacientes cadeirantes. Teste de Spearman investigou as relações entre força muscular, função motora e idade. Resultados O escore total da escala MRC e da MFM foram fortemente relacionados entre si (r = 0,94; p < 0,001), mas não com a idade (r = -0,19; r = -0,31, respectivamente; p > 0,05). Foram encontradas correlações fortes e moderadas entre os escores parciais de força muscular e função motora. As relações mais fortes ocorreram entre os escores totais, Dimensão 2 (controle axial/proximal) e 3 (controle distal) da escala MFM. Conclusão Força muscular e função motora estão fortemente correlacionadas e parecem diminuir proporcionalmente na DMD.

Frida Kahlo: a arte como desafio à deficiência e à dor, com enfoque napoliomielite anterior aguda / Frida Kahlo: the art as challenge to deficiency and pain, with focus on acute anterior poliomyelitis

Introdução: Frida Kahlo, pintora mexicana e revolucionária, aos 6 anos de idade apresentou poliomielite anterior aguda que a deixou com seqüelas permanentes no membro inferior. Aos 20 anos sofreu grave acidente de ônibus que culminou em lesões músculo-esqueléticas que causaram dores e problemas por toda a sua trajetória de vida. A sua pintura é única e quase uma biografia de paixão e dor. Objetivos: Descrever e discutir as pinturas e comentários da biografia de Frida Kahlo, que se relacionam principalmente à neurologia: anormalidades congênitas (espinha bífida), poliomielite anterior aguda, injúrias da coluna vertebral e dor neuropática. Método: Foram analisadas bibliografias quearticulassem neurologia, psicologia e arte e, contemplassem o panorama histórico e cultural dos períodos de produção da pintora. Resultados: A vida de Frida Kahlo esteve marcada pela dor, tragédias e sofrimentos. Para Frida a pintura foi uma maneira de inventar a si mesma, mas também um modo de exorcizar e dor e de fazer tolerável o desespero das inúmeras convalescenças que teve que defrontar ao longo de sua vida. Conclusão: Frida insiste em que a vida deva ser bem vivida mesmo que não seja longa. Sua vida foi influenciada profundamente por doenças crônicas e neurológicas. Seu trabalho é a melhor ilustração de sua vida.

Introduction: Frida Kahlo was a painter and a revolutionary Mexican woman that at 6 years of age had acute anterior poliomyelitis with permanent sequels in lower limbs. At the age of 20, she suffered a serious bus accident that culminated in muscle-skeletal injuries thatcaused pains and problems all her life. Her painting is unique and almost a biography of passion and pain. Objective: To describe and discuss the paintings and comments of the Frida Kahlo?s biography related to neurology: congenital abnormalities (spina bifida), acute anterior poliomyelitis, spinal cord injuries, and neuropathic pain. Method: We analysed the literature about the painter that articulated neurology, psychology, and art and contemplated the cultural and historical panorama. Results: The life of Frida Kahlo was marked by pain, tragedies, and sufferings. For Frida, the painting was a way to invent herself, but also a way of exorcize the pain and making tolerable the desperationof the countless convalescences that she had to confront throughout her life. Conclusion: Frida insists on that the life should be well even though not too long. Her life was deeply influenced by chronic and neurological illnesses. Her work is the best illustration of her life.