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Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. As some disorders that cause skeletal dysplasia have treatments available, early diagnosis is particularly important, but may be challenging due to overlapping features and symptoms [ 5 ] that may also be ...
Scoliosis is a common spinal disease in which the spine has a curvature usually in the shape of the letter "C" or "S". This is most common in girls, but there is no specific cause for scoliosis. [5] Only a few symptoms occur for one with this disease, which include feeling tired in the spinal region or backaches.
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. [6] Symptoms may include pain, numbness, or weakness in the arms or legs. [1] Symptoms are typically gradual in onset and improve with leaning forward. [1]
The compression of the spinal nerve roots that control movements and sensations in the lower body subsequently causes the symptoms of NC. [5] The causes of LSS are most commonly acquired and include degenerative changes such as degenerative disc disease and spinal osteoarthritis .
A neurological disease refers to any ailment of the central nervous system, including abnormalities of the brain, spinal cord and other connecting nerve fibres. [8] Where millions of people are affected by neurological diseases on a worldwide scale, [8] it has been identified that the number of different types of neurological diseases exceeds six hundred, [9] any of which an individual can incur.