🧠 Chapter 647 · Evaluation & Investigation of Neuromuscular Disorders

Nelson Textbook of Pediatrics 22nd Edition | Approach to motor unit diseases: genetic testing, CK, EMG/NCS, muscle biopsy, rhabdomyolysis, acute flaccid paralysis. Localization of weakness — myopathy vs neuropathy vs neuromuscular junction.

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📋 30 Assessment Scenarios — Neuromuscular Disorders (Chapter 647)

📇 High‑Yield Review Cards: Neuromuscular Evaluation

🩺 Explore by Presenting Symptom (Localization clues)

Select a clinical presentation to see the diagnostic approach from Chapter 647.

📋 Step‑by‑Step Investigation of Neuromuscular Disorders

🔑 Key Principles — Nelson Chapter 647
• Localization: Upper motor neuron vs lower motor unit (anterior horn cell, nerve, NMJ, muscle).
• Genetic testing first-line for suspected DMD, SMA, CMT (blood-based).
• Serum CK markedly elevated in muscular dystrophies, rhabdomyolysis; normal in NMJ and many neuropathies.
• EMG/NCS distinguishes myopathic vs neurogenic, demyelinating vs axonal.
• Muscle biopsy when genetic testing nondiagnostic (histochemistry, immunohistochemistry).
• Acute flaccid paralysis differential: Guillain‑Barré, transverse myelitis, acute flaccid myelitis, botulism.

    ⚡ Reflex Prompts — Clinical Decision Making in Neuromuscular Diagnosis

    📖 Summary: Evaluation & Investigation of Neuromuscular Disorders (Nelson 647)