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(Contributed by Dr. Sotero de Menezes.)
Apr. 03, 2021
Stiff-person syndrome is a rare disorder that causes continuous muscle contractions with spasms, abnormal postures, and progressive disability. It is often associated with other autoimmune signs and symptoms as well as nonspecific and organ-specific autoantibodies. The symptoms of stiff-person syndrome likely relate to cortical and spinal cord hyperexcitability secondary to reduction of GABA.
Sep. 26, 2021
Neuropharmacology & Neurotherapeutics
Nov. 05, 2020
Stroke & Vascular Disorders
Prevention of stroke and transient ischemic attack includes blood pressure lowering, cholesterol reduction with statins, smoking cessation, and antiplatelet therapy, and more specific interventions, such as carotid revascularization or anticoagulation for atrial fibrillation.
Jul. 21, 2021
Oct. 14, 2020
Klippel-Feil syndrome is a condition involving fusion of cervical vertebrae and associated changes in neck length and mobility, with low hairline posteriorly. The condition is usually sporadic but may be autosomal dominant or recessive. Several genes have been identified; the search for other candidate genes is ongoing. On occasion, Klippel-Feil syndrome is associated with other anomalies or conditions, thus, complicating the clinical course.
Jun. 01, 2020
Childhood Degenerative & Metabolic Disorders
Niemann-Pick disease type C is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by impaired cellular trafficking of cholesterol and sphingolipids and caused by mutations in either the NPC1 or NPC2 gene. The age of presentation is highly variable, ranging from the perinatal period to late adulthood. The initial manifestations may also vary, being hepatic, neurologic, or psychiatric in nature.
Oct. 02, 2019
Epilepsy & Seizures
Autosomal dominant sleep-related hypermotor epilepsy is characterized by clusters of nocturnal motor seizures, typically beginning in childhood. Seizures occur almost exclusively from sleep, although some patients may have infrequent daytime seizures. More severe cases may have intellectual disability and psychiatric features. It follows autosomal dominant inheritance with incomplete (70%) penetrance.
Mar. 19, 2019