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Subacute combined degeneration of spinal cord, also known as myelosis funiculus, or funicular myelosis, [1] also Lichtheim's disease, [2] [3] and Putnam-Dana syndrome, [4] refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B 12 deficiency (most common).
Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. [2] It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase.
Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present.
Mineral deficiency is a lack of the dietary minerals, the micronutrients that are needed for an organism's proper health. [1] The cause may be a poor diet , impaired uptake of the minerals that are consumed, or a dysfunction in the organism's use of the mineral after it is absorbed.
The most common cause of osteomalacia is a deficiency of vitamin D, which is normally derived from sunlight exposure and, to a lesser extent, from the diet. [10] The most specific screening test for vitamin D deficiency in otherwise healthy individuals is a serum 25(OH)D level. [ 11 ]
In addition to these frequencies, there is a 'pseudo'-deficiency that affects 7–15% of the population. [9] [10] People with the pseudo deficiency do not have any MLD problems unless they also have affected status. With the current diagnostic tests, Pseudo-deficiency reports as low enzyme levels but sulfatide is processed normally so MLD ...
Rickets, scientific nomenclature: rachitis (from Greek ῥαχίτης rhakhítēs, [6] meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes. [2] Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping.
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.