Review of Systems for Kennedy's Disease
For Kennedy's disease (spinal and bulbar muscular atrophy), conduct a systematic review of systems focusing on progressive lower motor neuron symptoms, bulbar dysfunction, sensory abnormalities, and androgen insensitivity manifestations, as this X-linked condition requires multidisciplinary assessment beyond pure motor neuron involvement. 1, 2
Neuromuscular System
Motor Symptoms
- Limb weakness and atrophy: Assess for slowly progressive proximal weakness, typically starting in the lower limbs before affecting upper extremities 1, 3
- Muscle fasciculations: Look for visible muscle twitching, particularly in limb and facial muscles 3
- Bulbar involvement: Evaluate for dysarthria (slurred speech) and dysphagia (difficulty swallowing), which often manifest later in disease course 1, 3
- Muscle cramps and fatigue: Document frequency and severity, as these are common symptomatic complaints 3
Sensory Symptoms
- Sensory disturbances: Screen for numbness, tingling, or reduced sensation in extremities, though these may be subclinical 3
- Sensory nerve involvement: Note that sensory changes on electromyography are common even when asymptomatic 1
Endocrine/Reproductive System
Androgen Insensitivity Features
- Gynecomastia: Examine for breast tissue enlargement, though this is not constant and present in only some patients 1, 3
- Testicular atrophy: Assess for reduced testicular size 3
- Erectile dysfunction: Inquire about sexual function changes 3
- Reduced fertility: Document reproductive history 3
Metabolic Abnormalities
- Glucose intolerance: Screen for diabetes or prediabetes 1
- Hyperlipidemia: Check lipid profile abnormalities 1
Cardiovascular System
- Cardiac repolarization abnormalities: Screen specifically for Brugada syndrome pattern on ECG 1
- Arrhythmias: Document any palpitations or syncope 2
- Heart rhythm disturbances: Perform baseline ECG as cardiac involvement has been reported 3
Respiratory System
- Dyspnea: Assess for shortness of breath with exertion or at rest 1
- Aspiration risk: Evaluate for coughing with swallowing, recurrent pneumonia 1
- Bronchial obstruction symptoms: Screen for chronic cough or difficulty clearing secretions 1
- Respiratory muscle weakness: Note that non-invasive ventilation is seldom needed but should be monitored 1
Gastrointestinal/Nutritional System
- Dysphagia severity: Grade difficulty swallowing solids versus liquids 1
- Weight loss: Document unintentional weight changes and nutritional status 1
- Choking episodes: Frequency and triggers 1
- Need for dietary modifications: Current texture modifications or feeding assistance 1
Genitourinary System
- Urinary disturbances: Screen for urgency, frequency, incontinence, or retention 3, 2
- Genitourinary abnormalities: Document any structural or functional abnormalities 1
Musculoskeletal System
- Muscle pain: Assess location, severity, and impact on function 3
- Contractures: Examine for joint limitations from muscle weakness 1
- Gait abnormalities: Document walking difficulties, falls, or need for assistive devices 1
Laboratory Markers to Review
- Creatine kinase (CK): Expect major hyperCK-emia, often 5-15 times normal 2
- Testosterone levels: May show variable patterns due to androgen insensitivity 3
- Liver enzymes: Can be elevated secondary to muscle breakdown 1
Functional Assessment
- Activities of daily living: Quantify independence in self-care, feeding, dressing 1
- Mobility status: Document ambulatory status, use of wheelchair or other aids 1
- Speech intelligibility: Rate clarity of communication 1
- Swallowing safety: Assess risk of aspiration 1
Critical Pitfalls to Avoid
Do not prescribe testosterone therapy despite the presence of androgen insensitivity, as higher androgen levels may exacerbate motor neuron degeneration 4, 5. This is a common error based on the misconception that compensating for androgen resistance would be beneficial 5.
Do not dismiss this as pure motor neuron disease—recognize the primary myopathy component evidenced by hyperCK-emia and myopathic changes on muscle biopsy 3, 2. This broader understanding impacts therapeutic targeting 2.
Do not overlook cardiac screening—Brugada syndrome can be life-threatening and requires specific ECG surveillance 1.