Inherited Metabolic Neurologic Disorders
INCIDENCE AND PREVALENCE Inborn errors of metabolism are individually rare. Most data in the past have relied on studies of prevalence, which are highly dependent on ascertainment of cases. This…
INCIDENCE AND PREVALENCE Inborn errors of metabolism are individually rare. Most data in the past have relied on studies of prevalence, which are highly dependent on ascertainment of cases. This…
A. Neurally mediated syncope, also referred to as neurocardiogenic, reflex, or vasodepressor syncope, is common and results from the activation of a reflex that produces a significant vasodilatory (vasodepressor) and/or bradycardic…
A. In cases of immediate failure, the patients never improve after surgery. This universally implies an error in diagnosis or a technical deficiency with the surgery. After the protocol outlined in…
B. Phenomenologic classification. 1. Rest tremor. Tremor that occurs in a body part that is not voluntarily activated and is completely supported against gravity. Rest tremor amplitude always diminishes during target-directed movements,…
(Video 29.1). Upper motor neuron signs (hyperreflexia and spasticity) are commonly found in patients with SCA1 and SCA3; cognitive impairment has been reported in association with SCA2, SCA12, SCA13, and…
B. Response to medications. Absence of benefit from adequate dosages of dopaminergic drugs, especially levodopa, casts doubt on the diagnosis of IPD and suggests a diagnosis of secondary causes of parkinsonism…
(2) Paresthesias and sensory loss. Paresthesias are spontaneous sensations originating from nerve fibers, which patients describe as “tingling” or “pins and needles.” Sensory loss indicates absence of normal sensation, which patients…
(Video 59.1). d. Treatment. (1) Activated charcoal. 1 g/kg by mouth if the patient is awake and is not at risk of aspiration and if ingestion is within 1 hour. (2) Benzodiazepines. Repeated…
Do you believe that the decision to treat Maria with IV morphine 6 months earlier was to hasten her death? Is this an “acceptable” outcome for someone who is 94…
(Video 19.1). Other findings include muscle weakness with greater than normal tone. Dysphagia may also occur. In addition to spastic dysarthria, the patient with pseudobulbar palsy may often exhibit emotional…