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

Autor: Capucine Morélot Panzini, Philippe Corcia, Claude Desnuelle, Karim Wahbi, Emilien Bernard, Giorgia Querin, François Salachas, Peter Bede, Christophe Vial, Pierre-François Pradat, Christel Jublanc, Philippe Couratier
Přispěvatelé: CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Laboratoire de Biochimie [CHRU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut E3M [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Pneumologie et Réanimation Médicale [CHU Pitié-Salpêtrière] (Département ' R3S '), Fédération des Maladies du Système Nerveux, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Cardiologie [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), MORELOT-PANZINI, Capucine, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Sorbonne Université (SU), Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Trinity College Dublin, Hôpital Pasteur [Nice] (CHU), Université Côte d'Azur (UCA), French Kennedy’s Disease Writing Group: Nadine Le Forestier, Andoni Echaniz-Laguna, Giorgia Querin, Gianni Sorarù, Thierry Perez, Cédric Ramos, Cyril Goizet, Jean Claude Desport, Michel Pugeat, Bertrand Pichon, Sandrine Maniez, Julie Robillard, Christophe Coupe, Laurence Laurier Betram, Sandra Roy Bellina, Nathalie Lévêque, Jérôme Penot, Valérie Goutines Caramel, Grelier, Elisabeth, CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Adult
Male
medicine.medical_specialty
Neuromuscular disease
Consensus
medicine.medical_treatment
[SDV]Life Sciences [q-bio]
lcsh:Medicine
Disease
Chest physiotherapy
Bulbo-Spinal Atrophy
X-Linked
Aspiration pneumonia
Guidelines
Spinal and bulbar muscular atrophy
Guideline
Kennedy disease
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Pharmacology (medical)
Genetic Testing
Intensive care medicine
Genetics (clinical)
Genetic testing
Motor Neurons
Rehabilitation
medicine.diagnostic_test
business.industry
Electromyography
Research
lcsh:R
Androgen insensitivity
General Medicine
medicine.disease
Dysphagia
3. Good health
[SDV] Life Sciences [q-bio]
Androgen receptor
030104 developmental biology
[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie
Practice Guidelines as Topic
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
medicine.symptom
business
Polyglutamine
030217 neurology & neurosurgery
Zdroj: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), pp.90. ⟨10.1186/s13023-020-01366-z⟩
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.90. ⟨10.1186/s13023-020-01366-z⟩
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01366-z⟩
Popis: 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). 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. Results 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. Symptomatic pharmaceutical therapy includes pain management, endocrine and metabolic interventions. There is no evidence for androgen substitution therapy. Conclusion The 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.
Databáze: OpenAIRE
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