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 |
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 |