Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

• Published in: American journal of medical genetics Vol. 58; no. 3; p. 209
• Main Authors: Frydman, M, Straussberg, R, Shomrat, R, Goebel, H, Legum, C, Shiloh, Y
• Format: Journal Article
• Language: English
• Published: United States 11-09-1995
• Subjects: Base Sequence; Creatine Kinase - blood; DNA Primers; Exons; Female; Genes, Dominant; Genetic Carrier Screening; Genomic Imprinting; Humans; Infant; Male; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Molecular Sequence Data; Muscular Dystrophies - genetics; Mutation; Pedigree; Polymerase Chain Reaction; Prenatal Diagnosis
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320580302

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia.