FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3015510664> ?p ?o ?g. }

• W3015510664 abstract "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.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.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." @default.
• W3015510664 created "2020-04-17" @default.
• W3015510664 creator A5004501662 @default.
• W3015510664 creator A5014008645 @default.
• W3015510664 creator A5020348717 @default.
• W3015510664 creator A5023678669 @default.
• W3015510664 creator A5024399195 @default.
• W3015510664 creator A5024570101 @default.
• W3015510664 creator A5027522830 @default.
• W3015510664 creator A5043038167 @default.
• W3015510664 creator A5054800804 @default.
• W3015510664 creator A5057016612 @default.
• W3015510664 creator A5057078027 @default.
• W3015510664 creator A5067355239 @default.
• W3015510664 date "2020-04-10" @default.
• W3015510664 modified "2023-10-09" @default.
• W3015510664 title "The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations" @default.
• W3015510664 cites W1966514873 @default.
• W3015510664 cites W1967869436 @default.
• W3015510664 cites W1970482746 @default.
• W3015510664 cites W1970871670 @default.
• W3015510664 cites W1972782804 @default.
• W3015510664 cites W1974477415 @default.
• W3015510664 cites W1981791309 @default.
• W3015510664 cites W1984355984 @default.
• W3015510664 cites W1991211195 @default.
• W3015510664 cites W1997682022 @default.
• W3015510664 cites W1998250881 @default.
• W3015510664 cites W2003223441 @default.
• W3015510664 cites W2003644831 @default.
• W3015510664 cites W2003966010 @default.
• W3015510664 cites W2009168838 @default.
• W3015510664 cites W2009364004 @default.
• W3015510664 cites W2009530541 @default.
• W3015510664 cites W2012804673 @default.
• W3015510664 cites W2014908060 @default.
• W3015510664 cites W2017310692 @default.
• W3015510664 cites W2020893064 @default.
• W3015510664 cites W2021719407 @default.
• W3015510664 cites W2022527711 @default.
• W3015510664 cites W2026684845 @default.
• W3015510664 cites W2028407659 @default.
• W3015510664 cites W2031706803 @default.
• W3015510664 cites W2034224672 @default.
• W3015510664 cites W2039720165 @default.
• W3015510664 cites W2040818153 @default.
• W3015510664 cites W2041120632 @default.
• W3015510664 cites W2043344533 @default.
• W3015510664 cites W2043751601 @default.
• W3015510664 cites W2044688928 @default.
• W3015510664 cites W2046776107 @default.
• W3015510664 cites W2050547559 @default.
• W3015510664 cites W2050679356 @default.
• W3015510664 cites W2054910143 @default.
• W3015510664 cites W2054982708 @default.
• W3015510664 cites W2060918861 @default.
• W3015510664 cites W2062110872 @default.
• W3015510664 cites W2066057010 @default.
• W3015510664 cites W2067261805 @default.
• W3015510664 cites W2070385315 @default.
• W3015510664 cites W2070399926 @default.
• W3015510664 cites W2071152750 @default.
• W3015510664 cites W2075591396 @default.
• W3015510664 cites W2076153747 @default.
• W3015510664 cites W2079166799 @default.
• W3015510664 cites W2079196978 @default.
• W3015510664 cites W2080905754 @default.
• W3015510664 cites W2081705803 @default.
• W3015510664 cites W2083746644 @default.
• W3015510664 cites W2084694065 @default.
• W3015510664 cites W2086027430 @default.
• W3015510664 cites W2090348760 @default.
• W3015510664 cites W2099945729 @default.
• W3015510664 cites W2105003307 @default.
• W3015510664 cites W2108570063 @default.
• W3015510664 cites W2108834942 @default.
• W3015510664 cites W2110783391 @default.
• W3015510664 cites W2113333419 @default.
• W3015510664 cites W2113722081 @default.
• W3015510664 cites W2118806115 @default.
• W3015510664 cites W2120567579 @default.
• W3015510664 cites W2120758802 @default.
• W3015510664 cites W2122942350 @default.
• W3015510664 cites W2124553703 @default.
• W3015510664 cites W2126908853 @default.
• W3015510664 cites W2126935117 @default.
• W3015510664 cites W2128412805 @default.
• W3015510664 cites W2128633219 @default.
• W3015510664 cites W2132844816 @default.
• W3015510664 cites W2133563625 @default.
• W3015510664 cites W2137610223 @default.
• W3015510664 cites W2138964805 @default.
• W3015510664 cites W2139857218 @default.
• W3015510664 cites W2140530485 @default.
• W3015510664 cites W2144765528 @default.
• W3015510664 cites W2150687550 @default.
• W3015510664 cites W2153500437 @default.
• W3015510664 cites W2154223956 @default.
• W3015510664 cites W2155114199 @default.
• W3015510664 cites W2155425441 @default.

• next