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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 ...
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 ...
Patients with this form of ADSLD present with fatal neonatal encephalopathy, respiratory failure, a lack of spontaneous movement and intractable seizures.Possible prenatal symptoms such as microcephaly, intrauterine growth restriction, loss of fetal heart rate variability and hypokinesia have been reported.
Women in the United States can expect to live nearly six years longer than men, as disparities in deaths from Covid-19 and drug overdoses drive the life expectancy gap to the widest it’s been in ...
The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI .
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]
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 symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor disabilities, with little or no speech; and cortical visual impairment. [1] Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to epileptic seizures that ...