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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]
The biggest difference is whether the infant is symptomatic at time of presentation to a health professional. If the infant is still showing symptoms, then the condition is termed an ALTE. In order to be considered a BRUE, the infant should be completely asymptomatic at time of presentation, which is more common.
Asymptomatic (or clinically silent) is an adjective categorising the medical conditions (i.e., injuries or diseases) that patients carry but without experiencing their symptoms, despite an explicit diagnosis (e.g., a positive medical test).
Many people with this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases. [21] A systematic review of radiographic research studies found no relationship between spina bifida occulta and back pain. [23] More recent studies not included in the review support the negative findings. [24] [25] [26]
A patient after incomplete paraplegia (lesion height L3) with a knee-ankle-foot orthosis (KAFO) with an integrated stance phase control knee joint. Spinal cord injury patients often require extended treatment in specialized spinal unit or an intensive care unit. [118] The rehabilitation process typically begins in the acute care setting.
[12] [15] Patients display muscle weakness and cerebellar and ocular malformations, with a life expectancy of less than 1 year. [ 9 ] [ 15 ] An additional dystroglycanopathy phenotype is Fukuyama congenital muscular dystrophy (FCMD) caused by a mutation in the Fukutin (FKTN) gene, which is the second most common type of muscular dystrophy in ...
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They may also act as general pediatricians, providing well newborn evaluation and care in the hospital where they are based. Some neonatologists, particularly those in academic settings who perform clinical and basic science research, may follow infants for months or even years after hospital discharge to better assess the long-term outcomes.