Search results for "charcot-marie-tooth"
showing 10 items of 37 documents
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease
2015
Background and purpose A three-generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies sho…
Case study: effect of handrim diameter on performance in a paralympic wheelchair athlete.
2009
This study, with a top T-52 class athlete, determines the relationship between stroke frequency (SF) and push time (PT) and wheelchair velocity (Wv) using different handrim diameters (HD) and the effect of different HDs on the athlete’s heart rate (HR) and blood lactate (LACT) at competition speeds. Wv shows a linear-direct relationship with SF but a linear-inverse relationship with PT (p < .001 in both cases). Using bigger handrims (0.37 m instead of 0.36 m), SF increases 6%, while PT decreases 27% (at 24 Km·h–1). HR (p < .0001) increases with Wv and is also affected by HD with differences between the 0.34 m—0.36 m handrim group (lower values) and the 0.37 m handrim (higher values). …
Vestibular impairment in Charcot-Marie-Tooth disease type 4C.
2014
Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched controls. We performed a comprehensive evaluation of the vestibular system, including video Head Impulse Test, bithermal caloric test, galvanic stimulation test and skull vibration-induced nystagmus test. None of the patients experienced dizziness, spontaneous or gaze-evoked nystagmus, but all had significant vestibular impairment when tested …
Influence of Training Models at 3,900-m Altitude on the Physiological Response and Performance of a Professional Wheelchair Athlete: A Case Study.
2019
Sanz-Quinto, S, Lopez-Grueso, R, Brizuela, G, Flatt, AA, and Moya-Ramon, M. Influence of training models at 3,900-m altitude on the physiological response and performance of a professional wheelchair athlete: A case study. J Strength Cond Res 33(6): 1715-1723, 2019-This case study compared the effects of two training camps using flexible planning (FP) vs. inflexible planning (IP) at 3,860-m altitude on physiological and performance responses of an elite marathon wheelchair athlete with Charcot-Marie-Tooth disease (CMT). During IP, the athlete completed preplanned training sessions. During FP, training was adjusted based on vagally mediated heart rate variability (HRV) with specific sessions…
Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case
1992
We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature. © 1992 Masson Italia Periodici S.r.l.
Mouse model for Charcot Marie-Tooth as a tool to better understand the disease
2016
Introducción La enfermedad de Charcot-Marie-Tooth (CMT) es uno de los trastornos neurológicos hereditarios más comunes que afecta a 17-40 de cada 100.000 personas según poblaciones; concretamente esta cifra se sitúa en 28 personas de cada 100.000 en España. La enfermedad recibe el nombre de los tres médicos que la identificaron por primera vez en 1886; Jean-Marie Charcot y Pierre Marie en París, Francia y Howard Henry Tooth en Cambridge, Inglaterra. La enfermedad de CMT, también conocida como neuropatía hereditaria motora y sensitiva o atrofia muscular del peroneo, abarca un grupo de trastornos que afectan los nervios periféricos. El fenotipo clásico incluye problemas en la marcha, déficit …
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
2013
Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1…
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
2016
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p. R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p. R190W mutation and another patient that harboured a MORC2 p. S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence vari…
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
2019
Abstract Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory i…