Clinical manifestations and gene diagnosis of collagen type Ⅵ related myopathy
10.3760/cma.j.issn.1006-7876.2015.11.008
- VernacularTitle:Ⅵ型胶原蛋白相关肌病的临床特点与致病基因分析
- Author:
Yi DAI
;
Xin YI
;
Haitao REN
;
Yanhuan ZHAO
;
Lin CHEN
;
Liying CUI
- Publication Type:Journal Article
- Keywords:
Collagen type Ⅵ;
Muscular diseases;
Arthrogryposis;
Muscular dystrophies;
High-throughput nucleotide sequencing
- From:
Chinese Journal of Neurology
2015;48(11):974-979
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical presentations, the findings of lab tests and procedures and the genetic investigation of collagen type Ⅵ related myopathy, and to help clinicians recognize and diagnose this rare disease.Methods Seven familiar or spontaneous collagen type Ⅵ related myopathy patients diagnosed by gene detection were analyzed.We emphasized on the features of clinical manifestations, serum creatine kinase level, electromyography, lower-limb muscle MRI, muscle biopsy and correlation between genotype and pZenotype.Results Among 7 patients, 3 were caused by COL6A1 mutation, 1 was caused by COL6A2 mutation and 3 were caused by COL6A3 mutation.Two patients were familiar wZile 5 were spontaneous.HigZligZted clinical presentations were proximal weakness in lower limbs and joint contrature.Serum creatine kinase level was sligZtly elevated.ElectromyograpZy sZowed sligZt myogenic damage.Muscle MRI of tZigZ sZowed distinct pattern of muscle involvement.Muscle patZology revealed dystropZic myogenic cZanges with proliferation of connective tissue between muscle fibers.Conclusions Neurologists should recognize the features of collagen type Ⅵ related myopathy, such as progressive weakness, early-onset joint contraetures, slightly elevated serum creatine kinase and selective muscle involvement on leg MRI scan, and then perform next-generation sequencing based genetic test on suspected patients.This approach would improve the diagnostic rate of the disease.
