Scientific background | KD Management Protocol |
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I. Pathophysiology II. Epidemiology III. Natural history IV. Genotype-phenotype correlations V. The clinical spectrum of KD: Diagnostic considerations 5–1) Neurological signs and symptoms 5.1.1 Motor and sensory signs and symptoms 5.1.2 Neuropsychological deficits 5.2) Extra-neurological manifestations 5.2.1 Endocrine abnormalities 5.2.2 Metabolic involvement 5.2.3 Bone involvement 5.2.4 Cardiac involvement 5.2.5 Genitourinary disorders 5.3) Laboratory examinations 5.3.1 Muscle biopsy 5.3.2 Biology 5.3.3 Imaging VI) Differential diagnoses VII) Management | I. Diagnosis and Evaluation 1.1. Diagnosis and initial evaluation 1.2. Professionals involved 1.3. Clinical cues 1.4. Neurologic signs and symptoms 1.5. Extra-neurological signs and symptoms 1.6. Confirmation of the diagnosis 1.6.1. Electrophysiology (EMG/NCS) 1.6.2. Genetic confirmation 1.6.3. Differential diagnoses 1.7. The announcement of the diagnosis and patient information 1.8. Evaluation of severity of disease, screening for KD-associated comorbidities 1.9. The evaluation of neurological signs 1.10. Respiratory and nutritional assessment 1.11. Endocrine and metabolic evaluation 1.12. Cardiac evaluation 1.13. Bone health assessment 1.14. Genitourinary evaluation 1.15. Genetic counselling II. Medical management 2.1. General objectives 2.2. Professionals involved 2.3. Therapeutic management 2.3.1. pharmacological treatment 2.3.2. non-pharmacological interventions 2.4. Pharmacological treatments for pain 2.5. Treatment of fatigue and mood disorders 2.6. Endocrine and metabolic management 2.7. Rehabilitation 2.8. Nutritional management 2.9. Respiratory management 2.10 Cardiac management III) Follow-up 3.1. General objectives 3.2. The multidisciplinary team 3.3. Clinical follow-up 3.4. Health care professional follow-up |