Charcot - Marie - Tooth disease ( CMT )
نویسندگان
چکیده
منابع مشابه
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
متن کاملWhole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...
متن کاملCharcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.
In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders ...
متن کاملPregnancies and deliveries in patients with Charcot-Marie-Tooth disease.
OBJECTIVE To investigate the effect of maternal Charcot-Marie-Tooth disease (CMT) on pregnancy and delivery. METHODS Data from the Medical Birth Registry of Norway 1967 to 2002 were surveyed. This registry has compulsory notification of all births. One hundred eight births by mothers with CMT were identified. The reference group consisted of all 2.1 million births by mothers without CMT. RE...
متن کاملIndicators for the prescription of foot and ankle orthoses for children with Charcot-Marie-Tooth disease
Background Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is associated with foot deformity, gait abnormalities and functional impairment. Orthoses are often prescribed for children with CMT, yet the indication and type of prescription is usually based on clinical judgement due to the lack of high quality research in this field. Therefore, the aims of t...
متن کاملMolecular genetics studies in Polish Charcot-Marie-Tooth families.
Charcot-Marie-Tooth (CMT) disorders are the extremely heterogeneous group of diseases of the peripheral nervous system in humans with a prevalence of 1: 2500. Up to date mutations in 30 genes have been reported in various CMT forms. In numerous CMT types only locus is known and some CMT forms were shown not to be linked with any known locus. Genetic studies in CMT disorders cover a wide spectru...
متن کامل