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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An inverse relation was found between the severity of the course of illness and the age at onset and maximum motor function achieved. This abstract may be abridged.
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SMA leads to a vast group of secondary manifestations in various organ systems, particularly the respiratory, muscle-skeletal and gastrointestinal.
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Respiratory insufficiency complicated by cardio-respiratory arrest was the cause of death in the deceased patients. Several types of the disease have been described along with several classification systems based either on espingal age at onset of symptoms or on the maximum function achieved.
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.
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Remédio inédito para atrofia muscular espinhal é liberado — Governo do Brasil
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. The authors conclude that the lack of acquisition of motor developmental milestones is correlated to worse vital and functional prognosis.
The main musculoskeletal complication was the development of contractures in the main joints of the lower limbs, as well as scoliosis. All patients sustained recurrent lower respiratory infections during the course of the disease. Dysphagia was the main gastroenterological complication.
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