scholarly journals Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases

Author(s):  
Д. Помарино ◽  
Дж.Р. Трен ◽  
А.А. Емелина

В данной статье приводится описание двух клинических случаев пациенток с ходьбой на носках. В рамках диагностики обеим пациенткам был проведен генетический тест на наследственную сенсомоторную нейропатию, который выявил у одной пациентки мутацию в гене NDRG1 с редким вариантом c.1022G> A; p.arg341His (частота минорного аллеля < 0,01%), у другой пациентки обнаружен гетерогенный вариант c.1053_1082del и NM_001135242.1 p.Thr360_Gly369del. Данные мутации ассоциированы с болезнью Шарко–Мари–Тута (тип 4D), но ни у одной из пациенток клинически не было обнаружено данной наследственной нейропатии, в то же время диагноз идиопатической ходьбы на носках также сомнителен, поскольку в обоих случаях потребовалось достаточно серьезное лечение. Поэтому разумно предположить, что обе пациентки ходят на цыпочках по генетической причине. This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G> A; p.arg341his (minor allele frequency < 0.01%), in the other patient a heterogeneous variant c.1053_1082del and NM_001135242.1 p.thr360_gly369del was detected. These mutations are associated with Charcot–Marie–Toute disease (type 4D), but none of the patients were clinically diagnosed with this hereditary neuropathy, while the diagnosis of idiopathic toe-walking is also doubtful, since in both cases quite serious treatment was required. Therefore, it is reasonable to assume that both patients walk on tiptoe for a genetic reason.

2016 ◽  
Vol 171 ◽  
pp. 290-293 ◽  
Author(s):  
Stephanie Baber ◽  
Joanne Michalitsis ◽  
Michael Fahey ◽  
Barry Rawicki ◽  
Terry Haines ◽  
...  

2001 ◽  
Vol 21 (6) ◽  
pp. 784-789 ◽  
Author(s):  
James F. Policy ◽  
Leslie Torburn ◽  
Lawrence A. Rinsky ◽  
Jessica Rose

Author(s):  
Andrzej Szopa ◽  
Małgorzata Domagalska-Szopa ◽  
Weronika Gallert-Kopyto ◽  
Wojciech Kiebzak ◽  
Ryszard Plinta

Author(s):  
Helen AZEVEDO ◽  
Henrique COSTA ◽  
Eduardo DAVIDOVICH ◽  
Camila PUPE ◽  
Osvaldo José Moreira NASCIMENTO

ABSTRACT Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Objective: To investigate the prevalence and characteristics of pain in patients with CMT1A. Methods: Nineteen patients with a diagnosis of CMT1A were evaluated between September 2018 and October 2019, and other causes of neuropathy were ruled out. The following tools were used for the pain assessment: neurological assessment, LANSS, DN4, clinical evaluation, VAS, CMTNS2 and SF-36. Statistical analysis was performed using prevalence analysis, t test, chi-square test and Spearman's rho. Results: The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). Mixed pain was also observed in 43.7% of the patients, according to clinical criteria. There was a statistically significant correlation between pain intensity and SF-36, thus demonstrating that the lower the pain was, the lower the impairment was, in all domains. Conclusion: Pain is a prevalent and important symptom in CMT1A, with moderate intensity and nociceptive characteristics according to two tools, but neuropathic pain is also present, and there may even be a mixed pattern of pain. The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals.


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