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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]
Lumbosacral transitional vertebrae consist of the process of the last lumbar vertebra fusing with the first sacral segment. [1] While only around 10 percent of adults have a spinal abnormality due to genetics, a sixth lumbar vertebra is one of the more common abnormalities. [2] Sacralization of the L5 vertebra is seen at the lower right of the ...
Congenital dermal sinus is an uncommon form of cranial or spinal dysraphism. [2] [3] It occurs in 1 in 2500 live births. [3]It occurs as a dermal indentation, found along the midline of the neuraxis and often presents alongside infection and neurological deficit. [2]
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]
Dural ectasia can be asymptomatic, in which case no intervention is necessary. However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor. [20] There is no medical consensus on how to manage symptomatic (painful) dural ectasia.
It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2] Some babies are born with very small differences compared to typical development, and others have significant changes.
In infants that weigh under 1500 g, sepsis is the most common cause of death. Three to four percent of infants per 1000 births contract sepsis. The mortality rate from sepsis is near 25%. [36] Infected sepsis in an infant can be identified by culturing the blood and spinal fluid and if suspected, intravenous antibiotics are usually started.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases.They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.