Metrics details. The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations. The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcare professionals.
The diagnosis should be suspected in an adult male presenting with slowly progressive lower motor neuron symptoms, typically affecting the lower limbs at onset. Bulbar involvement dysarthria and dysphagia is often a later manifestation of the disease.
Gynecomastia is not a constant feature, but is suggestive of a suspected diagnosis, which is further supported by electromyography showing diffuse motor neuron involvement often with asymptomatic sensory changes. A suspected diagnosis is confirmed by genetic testing.
The multidisciplinary assessment should ascertain extra-neurological involvement such as cardiac repolarisation abnormalities Brugada syndrome , signs of androgen resistance, genitourinary abnormalities, endocrine and metabolic changes glucose intolerance, hyperlipidemia. In the absence of effective disease modifying therapies, the mainstay of management is symptomatic support using rehabilitation strategies physiotherapy and speech therapy.
Nutritional evaluation by an expert dietician is essential, and enteral nutrition gastrostomy may be required. Respiratory management centres on the detection and treatment of bronchial obstructions, as well as screening for aspiration pneumonia chest physiotherapy, drainage, positioning, breath stacking, mechanical insufflation-exsufflation, cough assist machnie, antibiotics. Non-invasive mechanical ventilation is seldom needed.
