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This is the most common form of ADSLD. Symptoms that become apparent in the first months of life include seizures, microcephaly and severe psychomotor retardation and are purely neurological. [5] Some patients display axial hypotonia, peripheral hypertonia and normal tendon reflexes.
Seasonal affective disorder (SAD) is a mood disorder subset in which people who typically have normal mental health throughout most of the year exhibit depressive symptoms at the same time each year. [ 1 ] [ 2 ] It is commonly, but not always, associated with the reductions or increases in total daily sunlight hours that occur during the winter ...
Sudden death of a young person can be caused by heart disease (including cardiomyopathy, congenital heart disease, myocarditis, genetic connective tissue disorders) or conduction disease (WPW syndrome, etc.), medication-related causes or other causes. [13]
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive [2] lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialuria , OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern ...
Restless legs syndrome (RLS), (also known as Willis–Ekbom disease (WED), is a neurological disorder, usually chronic, that causes an overwhelming urge to move one's legs. [2] [10] There is often an unpleasant feeling in the legs that improves temporarily by moving them. [2] This feeling is often described as aching, tingling, or crawling in ...
Stiff-person syndrome, aka Moersch-Woltman syndrome, is a neurological disorder that can cause symptoms such as stiffening in the muscles of the trunk, along with stiffness and rigidity in the ...
The life expectancy of individuals with MPS VI varies depending on the severity of symptoms. Without treatment, some individuals may survive through late childhood or early adolescence. People with milder forms of the disorder usually live into adulthood, although they may have reduced life expectancy. Heart disease and airway obstruction are ...
The disease is fatal, with symptoms that include neurological damage and severe intellectual disability. [10] These sulfatase enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumulation of lipids and mucopolysaccharides inside the lysosome ...