Child neurology 1

Question 1

What are general principles of evaluation and description of childhood neuromuscular diseases?

Answer 1

1. Histology (H&E) patterns
2. Unusual patterns
3. Functional classification:

*Weakness (sensory, autonomic involvement)
4. Anatomical classification:

*Arms vs. legs vs. cranial nerves
*Proximal vs. distal (symmetric vs. asymmetric)
5. Temporal classification:

*Acute, chronic, episodic, hereditary
*Fatigue patterns
*Age of onset considerations

Question 3

Diagnostic tests

Answer 3

1. Creatine kinase levels
2. Electrodiagnostic studies
3. Ultrasound and MRI
4. Genetic testing
5. Muscle biopsy

Question 4

Top 8 most common neuromuscular disorders in Irish paediatric cohort

Answer 4

1. Duchenne muscular dystrophy
2. HMSN
3. Myotonic dystrophy
4. SMA
5. Merosin deficient congenital muscular dystrophy
6. Friedreich’s ataxia
7. Congenital myopathy
8. Myopathy