Korean Journal of Pediatrics 2007;50(9):868-874.
Published online September 15, 2007.
Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
Sook Hyun Nam1, Young Bae Son1, Bo Lyun Lee1, Jeehun Lee1, Chang-seok Ki2, Munhyang Lee1
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine, Seoul, Korea
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine, Seoul, Korea
2Department of Laboratory medicine, Samsung Medical Center, Sungkyunkwan University school of Medicine, Seoul, Korea
분자 유전학적 방법으로 진단된 선천성 근육긴장성 이영양증 환자의 임상 양상
남숙현1, 손영배1, 이보련1, 이지훈1, 기창석2, 이문향1
1성균관대학교 의과대학 삼성서울병원 소아과학교실
1성균관대학교 의과대학 삼성서울병원 소아과학교실
2성균관대학교 의과대학 삼성서울병원 진단검사의학교실
Correspondence: 
Munhyang Lee, Email: mhlee@smc.samsung.co.kr
Abstract
Purpose
: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity.
Methods
: A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006.
Results
: All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone.
Conclusion
: All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.
Key Words: Congenital myotonic dystrophy, Polyhydramnios, Equinovarus, Hypotonia, Myotonic dystrophy protein kinase, Trinucleotide repeats


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