Neonatal Nursing Certification Review: Section 3 Neuro – Part 10 2/2:Neuromusc Disorders/Hypotonia

🚨 MASTER Advanced Neonatal Neuromuscular Disorders and Hypotonia for Certification Success! Essential recognition, diagnostic, and management pearls for NICU providers.

👶 This lecture continues neuromuscular disorders and hypotonia, focusing on congenital myasthenic syndromes, acquired neonatal myasthenia, spinal muscular atrophy (SMA), Pompe disease, diagnostic testing strategies, NICU management, genetic counseling, and emerging therapies.

🎯 HIGH-YIELD EXAM CONTENT:
✅ Congenital myasthenic syndromes: DOK7 (stridor, albuterol-responsive), ChAT (apneic episodes, bulbar weakness)
✅ Acquired neonatal myasthenia: maternal antibody transfer, transient course, pyridostigmine/IVIG management
✅ SMA: SMN1 deletion, tongue fasciculations, early treatment with nusinersen or gene therapy dramatically improves outcomes
✅ Pompe disease: infantile glycogen storage disorder, cardiomegaly, tongue fasciculations, enzyme replacement therapy (alglucosidase alfa)
✅ Genetic testing: SMA first-line, followed by targeted panels or whole exome sequencing; limitations and complementary testing
✅ NICU management: BiPAP/CPAP preferred, avoid aminoglycosides and magnesium in NMJ disorders, early nutrition support
✅ Long-term outcomes: SMA dramatically altered by therapy, CMD progressive with disability, CM static with better prognosis
✅ Genetic counseling: recurrence risk 25% for AR conditions, prenatal testing options, family screening, support groups
✅ Emerging therapies: splice modifiers (risdiplam), read-through agents, expanding newborn screening panels

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