Mariana Pimentel de Mello

Amyotrophic lateral sclerosis: one or multiple causes?

The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients.

Man-in-the-barrel syndrome, a symmetrical proximal brachial amyotrophic diplegia related to motor neuron diseases: a survey of nine cases

OBJECTIVE To report on 9 patients presenting with sporadic motor neuron disease , who over a long period of time evolved with a symmetrical proximal brachial amyotrophic diplegia. METHODS Nine patients were followed-up who , displayed, since onset, a progressive limitation of arm flexion/abduction resulting in a peculiar posture with both hands hanging loosely beside the trunk. Electrophysiological test results were consistent with lower motor neuron disease. Cervical MRI was performed in all patients. RESULTS Nine male subjects with ages ranging from 38 to 73 years at onset of symptoms, developed bilateral and symmetric paresis and atrophy of upper limb muscles. Proximal muscles were more involved than the distal groups. In most patients tendon reflexes were absent or hypoactive in the upper limbs. Needle electromyography (EMG) revealed positive sharp waves and fibrillations and high amplitude polyphasic potentials with an incomplete recruitment pattern in most upper limb muscles. EMG of lower limb muscles was normal in some cases while abnormal in others. MRC did not disclose cervical spinal cord abnormalities from C5-T1. CONCLUSION Attention is called to the Man-in-the-Barrel syndrome in some motor neuron diseases, especially in patients with progressive spinal atrophy and amyotrophic lateral sclerosis.

Inclusion body myositis and HIV infection

A 56 year-old French man was diagnosed as having HIV infec-tion in 2000. Initially the CD4 cell counts were 314 and the viral load was 626 copies. A treatment with HAART was started. Two months later the CD4 was normal and the viral load fell to 0. One year later he noticed difficulty in climbing stairs with slowly progression and in seven months he could walk only with aids of canes. He also noticed some difficulties with movements of the hands. A diagnostic of a muscle disease due to zidovudine was done and HAART was stopped. As there was no improvement in

Benign monomelic amyotrophy with proximal upper limb involvement: case report

Monomelic amyotrophy (MA) is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Usually sporadic, it usually has an insidious onset with a mean evolution of 2 to 4 years following first clinical manifestations, which is, in turned, followed by stabilization. We report a case of 20-years-old man who presented slowly progressive amyotrophy associated with proximal paresis of the right upper limb, which was followed by clinical stabilization 4 years later. Eletroneuromyography revealed denervation along with myofasciculations in various muscle groups of the right upper limb. We call attention to this rare location of MA, as well as describe some theories concerning its pathophysiology .

Post-poliomyelitis syndrome: case report

The post-polio syndrome (PPS) is an entity characterized for an episode of muscular weakness and/or abnormal muscular fatigue in individuals that had presented acute polio years before. We report the case of PPS in a patient, 40 years, that thirty-five years after had had paralytic poliomyelitis, developed new symptoms of fatigue, muscular atrophy, dyspnea, difficulties in deambulation and muscular and joint pain. The electromyographic findings revealed injuried neurons of the anterior horn of the marrow and reinnervation after muscular tests.

Severity and Functional Ability Scale for Amyotrophic Lateral Sclerosis patients:preliminary results

Recebido em: 01/08/08 Revisado em: 02/08/08 a 03/09/08 Aceito em: 04/09/08 Conflito de interesses: nao Neuromuscular Disease Outpatient Division, Federal Fluminense University – UFF, Antonio Pedro University Hospital – HUAP. Physical Therapist, Chair of the Neurological Rehabilitation, Escola Superior de Ensino Helena Antipoff (ESEHA) and Neuroscience Researcher at UFF. Neurologist, Chair of the Neurology Department and Head of Clinical Neurology Staff, UFF. Neurologist, MD, PhD, Chair of the Neurology Department, UFF. Physical therapist, Department of Neuroscience, UFF. Neuropsychiatry Institute, Instituto de Psiquiatria da Universidade do Brasil, UFRJ. Neurolgist, Neurology Department, Deolindo Couto Neurology Institute, UFRJ. MD, PhD, Neurologist, Department of Neurology, Unifesp. Neurologist, Neurology Department, UFF. Medical Student, UFF. PhD, Psychologist, Neuro-Sono, Department of Neurology, Universidade Federal de Sao Paulo. 1.