Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease
نویسندگان
چکیده
منابع مشابه
Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease
OBJECTIVE Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. METHODS Before clinical PGD, we assessed the amplification rate an...
متن کاملPregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing the PMP22 gene. A couple with a previous history of CMT followed by termination...
متن کاملDiagnosis of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifes...
متن کاملCharcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
متن کاملCharcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
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ژورنال
عنوان ژورنال: Clinical and Experimental Reproductive Medicine
سال: 2013
ISSN: 2233-8233,2233-8241
DOI: 10.5653/cerm.2013.40.4.163