Neurology CME

Activity Description / Statement of Need:

In this online, self-learning activity:

Pompe disease (PD) is a progressive, often fatal, autosomal recessive, neuromuscular disorder caused by mutations of the α-glucosidase gene on chromosome 17. PD is characterized by glycogen accumulation in skeletal, cardiac and smooth muscles due to a deficiency in α-glucosidase (GAA), an important lysosomal enzyme responsible for glycogen catabolism. PD is categorized into three groups based on symptoms and age of onset. The classic infantile form presents in the first year of life, usually in the first two months, with hypertrophic cardiomyopathy. The non-classic infantile form presents later in the first year of life, without or with less severe cardiomyopathy. The late onset form of PD presents any time after one year of life, usually without cardiac complications.

PD is rare, with one study estimating the incidence in the U.S. to be 1 in 22,000 births. The biggest risk factor for the disease is genetics; at conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not a carrier. Nonspecific diagnostic findings for PD may include abnormal EMG, elevated serum creatine kinase, elevated transaminases and elevated lactate dehydrogenase. A definitive diagnosis for PD involves a dried blood spot test to determine GAA enzyme activity level; reduced GAA activity (less than 40% of normal) is indicative of a positive diagnosis. A gene mutation analysis, or another GAA enzyme test using a different area of tissue, is recommended to confirm the diagnosis. The disease is not uncommonly undiagnosed or is misdiagnosed, representing one practice gap that continued HCP education may address, particularly given that earlier treatment may minimize rapid and irreversible disease progression.

Target Audience:

The following HCPs: Neurologists, pediatricians, and primary care physicians; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other HCPs with an interest in or who may clinically encounter patients with PD.

Activity Description / Statement of Need:

In this online, self-learning activity:

Narcolepsy is a neurologic disorder characterized by inappropriate regulation of the sleep-wake cycle and excessive sleepiness during waking hours. Affected individuals may fall asleep at inappropriate times, such as when talking to others, eating, or even driving. Roughly 135,000 to 200,000 people in the United States are estimated to have narcolepsy. Women and men are affected by narcolepsy equally, and most patients begin having symptoms between the ages of 7 and 25 years. The treatment of narcolepsy may be complicated and must be tailored individually after careful evaluation of the patient’s symptoms.

Target Audience:

The following HCPs: neurologists, internists, PCPs, psychiatrists; nurse practitioners, physician assistants, and pharmacists who specialize in the aforementioned areas of specialty; and those who otherwise commonly care for or clinically encounter patients with sleep disorders.