Preliminary clinical and genetic study of a family with ophthalmoplegia,dysphagia and facial weakness
- VernacularTitle:眼面咽喉肌受累的一个家系临床及其相关基因的初步研究
- Author:
Ye LIU
;
Su-Ju DING
;
Yang-Tai GUAN
;
Jian-Ming JIANG
;
Tao WU
;
Yi CUI
;
- Publication Type:Journal Article
- Keywords:
Deglutition disorders;
Ophthalmoplegia;
Facial paralysis;
Muscular dystrophies;
Pedigree
- From:
Chinese Journal of Neurology
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the features of familiar facial palsy,ophthalmoplegia and dysphagia characterized by autosomal dominant inheritance in a family and to discuss the classification and pathogenesis of the disease.Methods Clinical,electrophysiological,pathological examinations were performed and blood samples were obtained from 5 patients and 26 family members.PCR protocol was used to identify a certain gene. Results In the 5 patients receiving physical examination,all had ptosis,external ophthalmoplegia,facial paralysis,dyphagia,hoarseness,decreased pharyngeal reflex;4 had amyotrophy of muscle of tongue,temporal nuscle,masseter and muscles of distal lower limbs;3 had proximal limb asthenia and distal limbs amyotrophy.Compared to those of oculopharyngeal muscular dystrophy(OPMD)with similar symptoms and signs,both electrophysiological manifestation and pathological findings of the family members supported the diagnosis of muscular dystrophy,but the(GCG)6(GCA)3GCG in the first exon of PABPN1 mutated neither in normal family members nor in patients.Conclusions This family presents clinical manifestations somewhat resembling to those of OPMD and distinctive to other disorders,but has a totally different genetic background from OPMD.It may be a new subtype of muscular dystrophy.
