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Table 6 Specific themes reviewed and elaborated upon for the development of the French national KD protocol

From: The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

Scientific backgroundKD Management Protocol
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