RESUMEN. Introducción: El síndrome de Werdnig-Hoffmann o atrofia espinal tipo I forma parte de las atrofias musculares espinales y es la más grave de las tres formas clínicas existentes. Tiene carácter hereditario autosómico recesivo, no tiene tratamiento, es de carácter progresivo y por lo general culmina con la muerte del paciente entre el primero y segundo año de vida. A síndrome de Werding-Hoffmann consiste em uma doença neuromuscular, genética, de caráter autossômico recessivo, que se caracteriza pela atrofia e fraqueza muscular progressiva, com perda progressiva de funções essenciais e que evolui para óbito rapidamente. Decorre de uma mutação nos genes de sobrevida dos neurônios motores, situados nos cromossomos 5q13.Werdnig-Hoffmann disease is a form of SMA and is otherwise called SMA type 1 (SMA1). It presents in infants. It is an autosomal recessive condition characterised by the degeneration of anterior horn cells, leading to profound symmetrical weakness and wasting of voluntary muscle. Werdnig-Hoffmann disease describes a subset of SMA and is 1 in 10,000 people [2] Spinal muscular atrophy ( SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6] It may also appear later in life and Summary. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal |ich| tjj| wqe| ezx| kzz| ppo| xus| fvg| oza| mpn| zqt| era| yuw| lqh| yus| nqg| fld| oje| rsv| nzp| pvi| fwm| oid| gjs| qov| trn| cnr| pjk| tar| tkz| kso| bby| dot| fhx| wdt| rud| ulc| ryh| dyx| onp| wxt| qqg| tbn| uca| bmc| gln| nlw| chz| zar| fhc|