Research progress of the Dejerine-Sottas disease
10.3760/cma.j.issn.1673-4408.2016.07.006
- VernacularTitle:Dejerine-Sottas病研究进展
- Author:
Fangyuan ZHENG
- Publication Type:Journal Article
- Keywords:
Dejerine-Sottas diseases;
Demyelinating neuropathy
- From:
International Journal of Pediatrics
2016;43(7):535-537,543
- CountryChina
- Language:Chinese
-
Abstract:
Dejerine-Sottas diseases (DSD)refers to a early onset severe demyelinating neuropathy,which is classified as CMT3 type,but the latest classification retains CMT3,and points out that the DSD is CMT1 disease with severe phenotype and slow nerve conduction velocities.DSD is a set of genetic heterogeneity peripheral neuropathy,genetic approach to autosomal dominant and autosomal recessive inheritance,When identified,the most frequent molecular genetic causes are monoallelic mutations in MPZ (myelin protein zero),PMP22 or EGR2 (early growth response 2).DSD is strictly defined as a severe demyelinating neuropathy,with early-onset,quick progress,severely slowed NCVs,and damaged sensorimotor functions.Is unsatisfatory,there is no clear effective treatment strategies.
