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

Abstract : Background:Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). Theobjective of the French national diagnostic and management protocol is to provide evidence-based best practicerecommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review andconsensus multidisciplinary observations.Results:The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referralcentre 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 slowlyprogressive lower motor neuron symptoms, typically affecting the lower limbs at onset. Bulbar involvement (dysarthria anddysphagia) is often a later manifestation of the disease. Gynecomastia isnot a constant feature, but is suggestive of asuspected diagnosis, which is further supported by electromyography showing diffuse motor neuron involvement oftenwith asymptomatic sensory changes. A suspected diagnosis is confirmed by genetic testing. The multidisciplinary assessmentshould ascertain extra-neurological involvement such as cardiac repolarisation abnormalities (Brugada syndrome), signs ofandrogen resistance, genitourinary abnormalities, endocrine and metabolic changes (glucose intolerance, hyperlipidemia). Inthe absence of effective disease modifying therapies, the mainstay of management issymptomatic support usingrehabilitation strategies (physiotherapy and speech therapy). Nutritional evaluation by an expert dietician is essential, andenteral nutrition (gastrostomy) may berequired. Respiratory management centres on the detection and treatment ofbronchial obstructions, as well as screening for aspiration pneumonia (chest physiotherapy, drainage, positioning, breathstacking, mechanical insufflation-exsufflation, cough assistmachnie, antibiotics). Non-invasive mechanical ventilation isseldom needed. Symptomatic pharmaceutical therapy includes pain management, endocrine and metabolic interventions.There is no evidence for androgen substitution therapy.
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Soumis le : lundi 15 juin 2020 - 16:03:34
Dernière modification le : mercredi 22 juin 2022 - 03:48:00

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Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, et al.. The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations. Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), pp.90. ⟨10.1186/s13023-020-01366-z⟩. ⟨hal-02868801⟩



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