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

Authors
  • Pradat, Pierre-François1
  • Bernard, Emilien2
  • Corcia, Philippe3
  • Couratier, Philippe4
  • Jublanc, Christel5
  • Querin, Giorgia1
  • Morélot Panzini, Capucine6, 7
  • Salachas, François8
  • Vial, Christophe2
  • Wahbi, Karim9
  • Bede, Peter1, 10
  • Desnuelle, Claude11
  • Le Forestier, Nadine
  • Echaniz-Laguna, Andoni
  • Querin, Giorgia
  • Sorarù, Gianni
  • Perez, Thierry
  • Ramos, Cédric
  • Goizet, Cyril
  • Desport, Jean Claude
  • And 10 more
  • 1 AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière, Département de Neurologie, Centre de Reference pour la SLA et les Maladies du Motoneurone, CNRS, INSERM, Laboratoire d’Imagerie Biomédicale, 47 Boulevard de l’Hôpital - F-75634, Paris Cedex, 13, France , Paris Cedex (France)
  • 2 CHU Lyon Hôpital Neurologique P. Wertheimer, Lyon, France , Lyon (France)
  • 3 CHU Tours, Tours, France , Tours (France)
  • 4 CHU Limoges, Limoges, France , Limoges (France)
  • 5 AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière Département d’endocrinologie, Paris, France , Paris (France)
  • 6 AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière, Service de Pneumologie, Médecine Intensive et Réanimation (Département R3S), Paris, F-75013, France , Paris (France)
  • 7 Sorbonne Université, INSERM, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, F-75005, France , Paris (France)
  • 8 AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière, Département de Neurologie, Centre de Reference pour la SLA et les Maladies du Motoneurone, Paris, France , Paris (France)
  • 9 AP-HP, CHU Cochin, Service de cardiologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Paris, France , Paris (France)
  • 10 Trinity College Dublin, Dublin, Ireland , Dublin (Ireland)
  • 11 CHU de Nice Université Côte d’Azur, Nice, France , Nice (France)
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Apr 10, 2020
Volume
15
Issue
1
Identifiers
DOI: 10.1186/s13023-020-01366-z
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundKennedy’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). 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.ResultsThe 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. Symptomatic pharmaceutical therapy includes pain management, endocrine and metabolic interventions. There is no evidence for androgen substitution therapy.ConclusionThe French national Kennedy’s disease protocol provides management recommendations for patients with KD. In a low-incidence condition, sharing and integrating regional expertise, multidisciplinary experience and defining consensus best-practice recommendations is particularly important. Well-coordinated collaborative efforts will ultimately pave the way to the development of evidence-based international guidelines.

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