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Two brothers, ages 4 and 10 years, with nemaline myopathy. Both boys had difficulty sucking and swallowing after birth. (Contributed by Dr. Susan Iannaccone.)
Childhood Degenerative & Metabolic Disorders
Dec. 28, 2020
Neuropharmacology & Neurotherapeutics
Perampanel, an aminomethyl propionic acid (AMPA) receptor antagonist, has been studied for various clinical indications, including epilepsy and Parkinson disease. The drug is currently approved in the United States and the European Union as adjunct treatment for control of partial-onset seizures in those who are 12 years of age and older. Perampanel has the potential for addiction and is a schedule III controlled substance.
Nov. 03, 2020
In typical HNPP, motor symptoms predominate over sensory symptoms. Slight compression of peripheral nerves and repeated local exercise leads to episodes of weakness with decreased perception to touch and pain. Attacks present with a single nerve involvement, with onset on awakening, and are usually triggered by mild compression that resolves in days to months.
Feb. 01, 2021
Patients with gait or walking disability may complain of weakness, unsteadiness, slowness, stumbling and falling, numbness, heaviness, and pain. Gait disorders in the elderly can be due to prior strokes, orthopedic or arthritic problems, peripheral neuropathy, and a fear of falling, and can be accelerated in the setting of Parkinson disease or other parkinsonian disorders.
May. 27, 2021
Behavioral & Cognitive Disorders
Vasculitis rarely affects the CNS, as opposed to other organ systems and the peripheral nervous system, and the primary presentation of vasculitis as dementia is extremely rare. Dementia usually occurs late in the course of the disease and is preceded by a history of stroke attributable either to the vasculitis directly, to abnormal coagulation, or to cardiac embolism. Primary angiitis of the CNS, an isolated granulomatous angiitis of the nervous system, is the archetypical vasculitic cause of dementia and the most difficult to diagnose because of its lack of associated extracranial abnormalities.
May. 14, 2020
Mar. 20, 2021
Jun. 01, 2020
Stroke & Vascular Disorders
Dec. 02, 2020