The diagnosis of muscular dystrophy

被引:11
作者
El-Bohy, AA
Wong, BL
机构
[1] Childrens Hosp, Med Ctr, Neuromuscular Comprehens Care Ctr, Cincinnati, OH 45229 USA
[2] Univ Cincinnati, Cincinnati, OH USA
来源
PEDIATRIC ANNALS | 2005年 / 34卷 / 07期
关键词
D O I
10.3928/0090-4481-20050701-09
中图分类号
R72 [儿科学];
学科分类号
100202 [儿科学];
摘要
Pediatricians should be familiar with the common presenting signs and symptoms of MD so that they can make a clinical diagnosis of possible MD based on the patient's medical history, a physical examination, and a CK screen. Appropriate referral to a neuromuscular specialist will then enable the precise diagnosis of MD to be made with definitive histologic, biochemical, and genetic testing.
引用
收藏
页码:525 / 530
页数:6
相关论文
共 21 条
[1]
THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6-8-JANUARY-1995 [J].
BUSHBY, KMD ;
BECKMANN, JS .
NEUROMUSCULAR DISORDERS, 1995, 5 (04) :337-343
[2]
Dystroglycan: important player in skeletal muscle and beyond - Review [J].
Cohn, RD .
NEUROMUSCULAR DISORDERS, 2005, 15 (03) :207-217
[3]
Cox GF, 1997, CURR OPIN CARDIOL, V12, P329
[4]
DUBOWITZ V, 1995, MUSLCE DISORD CHILDH
[5]
Muscular dystrophy into the new millennium [J].
Emery, AEH .
NEUROMUSCULAR DISORDERS, 2002, 12 (04) :343-349
[6]
Lesson of the week - Late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay [J].
Essex, C ;
Roper, H .
BRITISH MEDICAL JOURNAL, 2001, 323 (7303) :37-38
[7]
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs [J].
Fischer, D ;
Walter, MC ;
Kesper, K ;
Petersen, JA ;
Aurino, S ;
Nigro, V ;
Kubisch, C ;
Meindl, T ;
Lochmüller, H ;
Wilhelm, K ;
Urbach, H ;
Schröder, R .
JOURNAL OF NEUROLOGY, 2005, 252 (05) :538-547
[8]
Garg A, 2004, NEUROL INDIA, V52, P496
[9]
DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS [J].
HOFFMAN, EP ;
BROWN, RH ;
KUNKEL, LM .
CELL, 1987, 51 (06) :919-928
[10]
The congenital and limb-girdle muscular dystrophies -: Sharpening the focus, blurring the boundaries [J].
Kirschner, J ;
Bönnemann, CG .
ARCHIVES OF NEUROLOGY, 2004, 61 (02) :189-199