ATROFIA MUSCULAR ESPINHAL PROGRESSIVA PDF

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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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It is genetically determined, with the absence or mutation of the survival motor neuron 1 SMN1 as a hallmark. 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 progressuva.

Atrofia muscular espinhal infantil progressiva relato de 12 casos

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. All patients sustained recurrent lower respiratory infections during the course of the disease. Respiratory insufficiency complicated by cardio-respiratory arrest was the cause of death in the deceased patients. The main musculoskeletal complication was the atrpfia of contractures in the main joints of the lower limbs, as well as scoliosis.

The authors conclude that the lack of acquisition of motor developmental milestones is correlated to worse vital and functional prognosis.

No warranty is given about the accuracy of the copy. Dysphagia was the main gastroenterological complication.

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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.

The authors conducted a retrospective study focusing on socio-demographic, clinical parameters, evolution and complications of the disease. Msucular leads to a vast group of secondary manifestations in various organ systems, particularly the respiratory, muscle-skeletal and gastrointestinal.