Clinical and pathological features of 16 patients with centronuclear myopathy
10.3760/cma.j.issn.1006-7876.2014.06.012
- VernacularTitle:中央核肌病16例临床及病理特点
- Author:
Ting CHEN
;
Chuanqiang PU
;
Qian WANG
;
Jiexiao LIU
;
Yanling MAO
- Publication Type:Journal Article
- Keywords:
Congenital;
Biopsy;
Pathology;
Centronuclear myopathy
- From:
Chinese Journal of Neurology
2014;(6):408-411
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze and summarize the clinical , pathological features of 16 patients with centronuclear myopathy.Methods All of the 16 patients performed clinical examination and sporadic patients and a proband with family history ( n=6 ) performed serum creatine kinase , electromyography and open muscle biopsies , and the specimens were used for a standard series of histological and histochemical stainings.The clinical and pathological features of these patients were analyzed.Results The proportion of centronuclear myopathy in suspected myopathy cases was 0.127%(6/4 724) in our department.The onset time ranged from infancy to adulthood.The common initial symptoms included mild to moderate weakness of lower limbs and bilateral ptosis ( n =4 ).The other symptoms were facial weakness ( n =1 ) and ophthalmoplegia (n=1).There were 12 patients performing distal weakness exceeding proximal weakness . One family with autosomal dominant inheritance of 11 patients had a later age of onset than the sporadic ones and manifested bilateral ptosis , bilateral lower limbs weakness , especially in distal muscle.Muscle biopsies showed pronouncedly increased amount of fibers with centrally placed nuclei with predominant type Ⅰfibers and a clear perinuclear halo surrounding the centrally placed nuclei and an appearance of spoke of a wheel in some fibers.Conclusions This series of centronuclear myopathy patients manifest clinical heterogeneity.Muscle biopsies show features of centralized nuclei pronounced increase , type Ⅰfibers predominance , etc.These can provide evidences for the diagnosis of the disease.
