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EXCEL Continuing Education

Lysosomal Storage Disorders: Neurological Manifestations

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Overview / Abstract:

Lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features including developmental delay, behavioral/psychiatric disturbances, seizures, acroparesthesia, motor weakness, cerebrovascular ischemic events, and extra-pyramidal signs.

Late-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life.

Expiration

Oct 21, 2021

Discipline(s)

Nurse Practitioner , Nursing CNE, Physician CME, Physician Assistant CME

Format

Webinar / Webcast / Video

Credits / Hours

1

Accreditation

ACCME

Is This Activity Certified for "Live" Credit?

YES

Presenters / Authors / Faculty

Gustavo H.B. Maegawa, MD, PhD, FACMG
Associate Professor
University of Florida
Department of Pediatrics/Genetics & Metabolism
Gainesville, FL

Activity Specialities / Related Topics

Family Medicine, Genetics, Internal Medicine, Neurology, Pediatrics, Primary Care

Sponsors / Supporters / Grant Providers

SANOFI GENZYME

Keywords / Search Terms

EXCEL Continuing Education lysosomal storage disorders, LSD, neonatal, pediatrics, genetics, neurology, primary care, geneticists, rare disorders. Free CE CME Live CE CME

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