Muscular Dystrophy: A Retrospective Evaluation of 15 Cases.
Sisli Etfal Hastan Tip Bul
; 52(1): 47-50, 2018.
Article
em En
| MEDLINE
| ID: mdl-32595371
ABSTRACT
OBJECTIVES:
The aim of this study was to investigate the clinical and laboratory findings of patients followed up with a diagnosis of Duchenne muscular dystrophy (DMD).METHODS:
This retrospective study included 15 boys diagnosed with muscular dystrophy at the Pediatric Neurology Department between July 2008 and July 2016. The presenting symptoms; level of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine kinase (CK); ophthalmological findings; echocardiography (ECHO) results; findings on brain magnetic resonance imaging (MRI); genetic analysis results; and muscular biopsy findings were evaluated.RESULTS:
The mean age of the patients was 5.2±2.3 years (range 11 months-8 years) and the mean age at the onset of DMD was 4.1±2.2 years (range 10 months-6 years). The ALT level ranged between 67 and 527 IU/L, the AST between 44 and 455 IU/L, and the CK between 931 and 19,595 IU/L. The genetic analysis determined deletions in 12 (80%) and duplications in 2 (13%) patients.CONCLUSION:
Parents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Idioma:
En
Revista:
Sisli Etfal Hastan Tip Bul
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Turquia