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Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family
M Frydman1, R Straussberg, R Shomrat
1Department of Pediatrics, Hasharon Hospital, Petah Tiqva, Israel.
Insights
This study reports a severe case of Duchenne muscular dystrophy (DMD) in a 7-month-old boy, presenting with rhabdomyolysis and a Wolff-Parkinson-White pattern. Early, severe DMD may be linked to inheriting both the maternal DMD gene and a paternal hyperCKemia gene.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration.
- Early diagnosis and understanding of genetic factors influencing DMD severity are crucial for patient management.
- Co-inheritance of genetic factors can potentially modify disease presentation.
Abstract:
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.