ATROFIA MUSCULAR ESPINHAL PROGRESSIVA PDF

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological. diagnosticada com Atrofia Muscular Espinhal (AME) do tipo 1, uma doença severa e progressiva que degenera os neurônios motores, inclusive da respiração. 17 nov. O presente trabalho aborda sobre a atrofia muscular espinhal (AME), também denominada amiotrofia muscular espinhal, que consiste em uma.

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Spinal Muscular atrophy SMA is a genetically determined specific neuromuscular disease, characterized by the deterioration of spinal a motor neurons, causing progressive muscular atrophy and weakening. This abstract may be abridged. No warranty is given about the accuracy of the copy.

SMA leads to a vast group of secondary manifestations in various organ systems, particularly the respiratory, muscle-skeletal and gastrointestinal. English Copyright of Acta Medica Portuguesa is the property of Centro Editor Livreiro da Ordem dos Medicos CELOM and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder’s lrogressiva written permission.

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Several types of the disease have been described along with several classification systems based either on the age at onset of symptoms or on the maximum function achieved.

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However, remote access to EBSCO’s databases from non-subscribing institutions is not allowed if the purpose of the use is for commercial gain through cost reduction or avoidance for a non-subscribing institution. The main musculoskeletal complication was the development espingal contractures in the main joints of the lower limbs, as well as scoliosis. Respiratory insufficiency complicated by cardio-respiratory arrest was the cause of death in the deceased patients.

Remote access to EBSCO’s databases is permitted to patrons of subscribing institutions accessing from remote locations for personal, non-commercial use. However, users may print, download, or email articles for individual use. The authors conclude that the lack of acquisition of motor developmental milestones is correlated to worse vital and functional prognosis.

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All patients sustained recurrent lower respiratory infections during the course of the disease. The authors conducted a retrospective study focusing on socio-demographic, clinical parameters, evolution and complications of the disease.

It is genetically determined, with the absence or mutation of the survival motor neuron 1 SMN1 as a hallmark. Users should refer to the original published version of the material for msucular full abstract. An inverse relation was found between the severity of the course of illness and the age at onset and maximum motor function achieved. Dysphagia was the main gastroenterological complication.