Twitter Digest for February 13, 2020

Twitter Digest for February 12, 2020

Twitter Digest for February 11, 2020

Twitter Digest for February 10, 2020

Spotlight on Idiopathic hypersomnia

In this article, Dr. Logan Schneider of Stanford University School of Medicine discusses idiopathic hypersomnia, which is characterized by excessive daytime sleepiness, difficulty awakening (sleep drunkenness), and undisturbed overnight sleep without cataplexy or known cause of excessive sleepiness.

Excessive sleepiness (hypersomnolence) of unknown etiology, which cannot be explained by another disorder, would be considered idiopathic hypersomnia. This should be clearly distinguished from other disorders that could present with complaints of excessive daytime sleepiness, such as narcolepsy, behaviorally-induced insufficient sleep, circadian rhythm disturbance, obstructive sleep apnea, or from hypersomnolence secondary to a medical condition or medication. These patients frequently present in adolescence and may have symptoms of autonomic nervous system dysregulation, but they are most often affected because of inability to attend to daytime obligations such as school or work. Because the pathophysiology is unknown, management is limited to symptomatic treatment and education.

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Twitter Digest for February 7, 2020

Twitter Digest for February 6, 2020

Spotlight on Sialidosis

Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficiency of neuraminidase 1 due to NEU1 mutations. Sialidosis type I is characterized by the development of ocular cherry-red spots and generalized myoclonus in the second or third decade of life. Seizures, hyperreflexia, ataxia, and progressive atrophy on brain MRI may also occur. Type II sialidosis is more severe than type I and is distinguished by the early onset of a progressive, rather severe, mucopolysaccharidosis-like phenotype with visceromegaly, dysostosis multiplex, and intellectual disability. In severe cases, hydrops fetalis may occur. Therapy based on overexpressing the neuraminidase chaperone, protective protein/cathepsin A (PPCA), may be useful in the future in this disease.

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Twitter Digest for February 5, 2020

Twitter Digest for February 4, 2020