Core Principles of KD Care
1. Early Identification
Many patients first present to primary care with nonspecific symptoms such as muscle cramps, tremor, weakness, or gynecomastia. Early recognition and referral for neuromuscular evaluation improve patient support and reduce diagnostic delay.
Typical KD features may include:
- Early Proximal > distal muscle weakness
- Bulbar symptoms (dysarthria, dysphagia)
- Fasciculations (global but characteristic facial/perioral)
- Gynecomastia or other signs of androgen insensitivity
- Elevated CK
- Metabolic abnormalities (lipids or glucose)
Definitive diagnosis is made by genetic testing confirming a CAG repeat expansion in the AR gene.
2. Multisystem Monitoring
Because KD affects more than muscle, the care approach must extend beyond neurology.
Key Systems to Monitor:
- Bulbar function: swallowing, speech
- Metabolic health: glucose tolerance, lipid profile
- Endocrine features: gynecomastia, androgen insensitivity
- Mobility and fall risk: gait, balance, strength
- Respiratory function: aspiration-related complications
- Nutrition and weight stability
3. Patient-Centered, Multidisciplinary Care Team
The goal is to anticipate changes, prevent complications, and support long-term quality of life. Because KD affects neuromuscular, endocrine, bulbar, and metabolic systems, patients benefit from coordinated care.
4. Care Coordination
What Primary Providers Can Do
- Maintain routine follow-up (6–12 months depending on disease stage)
- Track and manage metabolic health
- Promptly refer for swallowing or mobility assessment
- Ensure vaccinations are up to date (influenza, pneumococcal, COVID)
- Reinforce safe exercise recommendations
- Provide ongoing psychosocial support
