Společnost C-M-T

Themain function of that company is: > celý článek <

Inherited peripheral neuropathies, likemany other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than genetic counseling aswell as symptomatic treatment and rehabilitation. In the past, ascorbic acid, progesterone antagonists, and subcutaneous neurotrophin-3 (NT3) injections have demonstrated improvement in animal models of CMT 1A, the most common inherited neuropathy, but have failed to translate any effect in humans. > celý článek <

Mutations in the HINT1 gene were recently discovered as being the major cause of autosomal recessive axonal neuropathy with neuromyotonia. This combination was clinically recognized and described previously in a few reports but is generally unknown. We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot- Marie-Tooth (HMN/CMT2) among Czech patients. Overall, mutations in the HINT1 gene seem to be a surprisingly frequent cause of inherited neuropathy in our group of patients. Biallelic pathogenic mutations were found in 21 patients from 19 families. The prevalent mutation in the Czech population is the p.R37P (95 % of pathogenic alleles). > celý článek <

Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. > celý článek <

Sir, The article by Auer-Grumbach et al. (2011) reporting that fibulin 5 (FBLN5) mutations are also linked to inherited neuropathies helped us to clarify the cause of autosomal dominant, demyelinating hereditary motor and sensory neuropathy (HMSN I) in our long-time known, but unsolved, Czech family. > celý článek <

We assessed pulmonary function in hereditary motor and sensory neuropathy. Fourteen neuropathy patients without spinal deformity (group 1), 14 with spinal deformity (group 2), and 16 individuals with idiopathic spinal deformity (group 3) matched to group 2 for age, height and Cobb angle, were included. Hereditary motor and sensory neuropathy severity was measured with Charcot–Marie–Tooth Neuropathy Score. > celý článek <

Mutations in more than 50 genes cause the inherited peripheral neuropathies known as Charcot-Marie-Tooth (CMT) disease, distal hereditary motor neuropathies or hereditary sensory and autonomic neuropathies. How to diagnose these disorders is a challenge for clinicians and patients. Murphy et al have provided a simple, rational approach to this challenge in their very nice article published in last month’s issue of the Journal of Neurology, Neurosurgery and Psychiatry. > celý článek <

CharcoteMarieeTooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. > celý článek <