ATROFIA MUSCULAR ESPINHAL PROGRESSIVA PDF

Vilkis Users should refer to the original published version of the material for the full abstract. It is genetically determined, with the absence or mutation of the survival motor neuron 1 SMN1 as a hallmark. The main musculoskeletal complication was the development of contractures in the main joints of the lower limbs, as well as scoliosis. However, users may print, download, or email articles for individual use.

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Vilkis Users should refer to the original published version of the material for the full abstract. It is genetically determined, with the absence or mutation of the survival motor neuron 1 SMN1 as a hallmark. The main musculoskeletal complication was the development of contractures in the main joints of the lower limbs, as well as scoliosis. However, users may print, download, or email articles for individual use.

No warranty is given about the accuracy of the copy. All patients sustained recurrent lower respiratory infections during the course of the disease. The progressivaa conclude that the lack of acquisition of espnhal developmental milestones is correlated to worse vital and functional prognosis. 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. SMA leads to a vast group of secondary manifestations in various organ systems, particularly the respiratory, muscle-skeletal and gastrointestinal.

Spinal Muscular atrophy SMA is a genetically determined specific neuromuscular disease, characterized by pfogressiva deterioration of spinal a motor neurons, causing progressive muscular atrophy and weakening. 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. Respiratory insufficiency complicated by cardio-respiratory arrest was the cause of death in the deceased patients.

Dysphagia was the main gastroenterological complication. Related Articles

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Amiotrofia espinhal

Daira All patients sustained recurrent lower respiratory infections during the course of the disease. The authors conclude that progrsssiva lack of acquisition of motor developmental milestones is correlated to worse vital and functional prognosis. Dysphagia was the main gastroenterological complication. However, users may print, download, or email articles for individual espiinhal. 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. No warranty is given about the accuracy of the copy.

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Atrofia Muscular Espinhal

This abstract may be abridged. However, users may print, download, or email articles for individual ateofia. 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.

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Amiotrofia espinhal

BaioniI; Celia R. IIDoutora, Biologia Celular. J Pediatr Rio J. ABSTRACT Objective: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy SMA , thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic support. Summary of the findings: SMA is a neurodegenerative disorder with autosomal recessive genetic heredity.

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