Lewis-sumner syndrome with lower-limb onset: Un under-recognized entity

2021 ◽  
Vol 429 ◽  
pp. 118405
Author(s):  
Alina Rizvanova ◽  
Eugeniya Melnik ◽  
Daria Grishina ◽  
Natalia Suponeva
Keyword(s):  
2019 ◽  
Vol 7 (1) ◽  
pp. 209
Author(s):  
Varsha Mishra ◽  
Rachna Sehgal

Hereditary myoclonus dystonia is a rare movement disorder characterized with combination of myoclonic jerks with mild to moderate dystonia. Mostly caused due to changes in SGCE gene. Author report case of a 3 years old girl with atypical features of lower limb onset, mild dystonia, upper limb and neck myoclonic jerks and younger onset. She was detected to have pathogenic variant of SGCE gene. A diagnosis of myoclonus dystonia should be considered at an early age also like in our case so that treatment is initiated early for better results and improved quality of life and development.


2009 ◽  
Vol 11 (4) ◽  
pp. 369-373 ◽  
Author(s):  
Martin R. Turner ◽  
Alice Brockington ◽  
Jakub Scaber ◽  
Hannah Hollinger ◽  
Rachael Marsden ◽  
...  
Keyword(s):  

2017 ◽  
Vol 75 (8) ◽  
pp. 515-522 ◽  
Author(s):  
Francis Meire Fávero ◽  
Mariana Callil Voos ◽  
Isac de Castro ◽  
Fátima Aparecida Caromano ◽  
Acary Souza Bulle Oliveira

ABSTRACT Objective To investigate the impact of epidemiological and clinical factors on the benefit of riluzole in patients with amyotrophic lateral sclerosis (ALS). Methods The survival rate of 578 patients with ALS (1999-2011) was analyzed by descriptive statistics and Kaplan-Meier curves. Considering the median of the sample survival time (19 months), patients were divided in two groups: below (B19) and above the median (A19). Kaplan-Meier curves compared the survival rates of patients treated with riluzole and with patients who did not take the medication. Results Riluzole increased the survival rates of patients with lower limb onset who were diagnosed after the first appointment in B19. Patients with bulbar onset and diagnosed on the first, or after the first appointment showed higher survival rates in A19. Males lived longer than females in both groups. Conclusion Epidemiological and clinical factors influenced the benefit of riluzole in the survival rates of patients with ALS.


2016 ◽  
Vol 2016 (8) ◽  
pp. omw031
Author(s):  
Rajendra Singh Jain ◽  
Sunil Kumar ◽  
Trilochan Srivastava

JAMA ◽  
1966 ◽  
Vol 197 (11) ◽  
pp. 915-916
Author(s):  
I. J. Schatz
Keyword(s):  

VASA ◽  
2008 ◽  
Vol 37 (4) ◽  
pp. 327-332 ◽  
Author(s):  
Koutouzis ◽  
Sfyroeras ◽  
Moulakakis ◽  
Kontaras ◽  
Nikolaou ◽  
...  

Background: The aim of this study was to investigate the presence, etiology and clinical significance of elevated troponin I in patients with acute upper or lower limb ischemia. The high sensitivity and specificity of cardiac troponin for the diagnosis of myocardial cell damage suggested a significant role for troponin in the patients investigated for this condition. The initial enthusiasm for the diagnostic potential of troponin was limited by the discovery that elevated cardiac troponin levels are also observed in conditions other than acute myocardial infarction, even conditions without obvious cardiac involvement. Patients and Methods: 71 consecutive patients participated in this study. 31 (44%) of them were men and mean age was 75.4 ± 10.3 years (range 44–92 years). 60 (85%) patients had acute lower limb ischemia and the remaining (11; 15%) had acute upper limb ischemia. Serial creatine kinase (CK), isoenzyme MB (CK-MB) and troponin I measurements were performed in all patients. Results: 33 (46%) patients had elevated peak troponin I (> 0.2 ng/ml) levels, all from the lower limb ischemia group (33/60 vs. 0/11 from the acute upper limb ischemia group; p = 0.04). Patients with lower limb ischemia had higher peak troponin I values than patients with upper limb ischemia (0.97 ± 2.3 [range 0.01–12.1] ng/ml vs. 0.04 ± 0.04 [0.01–0.14] ng/ml respectively; p = 0.003), higher peak CK values (2504 ± 7409 [range 42–45 940] U/ml vs. 340 ± 775 [range 34–2403] U/ml, p = 0.002, respectively, in the two groups) and peak CK-MB values (59.4 ± 84.5 [range 12–480] U/ml vs. 21.2 ± 9.1 [range 12–39] U/ml, respectively, in the two groups; p = 0.04). Peak cardiac troponin I levels were correlated with peak CK and CK-MB values. Conclusions: Patients with lower limb ischemia often have elevated troponin I without a primary cardiac source; this was not observed in patients presenting with acute upper limb ischemia. It is very important for these critically ill patients to focus on the main problem of acute limb ischemia and to attempt to treat the patient rather than the troponin elevation per se. Cardiac troponin elevation should not prevent physicians from providing immediate treatment for limb ischaemia to these patients, espescially when signs, symptoms and electrocardiographic findings preclude acute cardiac involvement.


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