Abstract
Dystrophinopathies include a spectrum of muscle diseases caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene which encodes the protein “dystrophin”. Commonly, it presents as DMD or Becker Muscular Dystrophy. Cases of DMD usually have dilated cardiomyopathy and a few have hypertrophic cardiomyopathy. Contiguous gene deletion syndromes are disorders with coincident expression of otherwise unrelated inborn errors of metabolism. Xp21 deletion syndrome is a deletion syndrome most frequently affecting the X-linked congenital adrenal hypoplasia, glycerol kinase and dystrophin loci. We present a floppy infant with hypertrophic cardiomyopathy who was subsequently diagnosed as DMD with a strong possibility of contiguous gene deletion syndrome in the family.
Highlights
Dystrophinopathies include a spectrum of muscle diseases caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene which encodes the protein “dystrophin”
Its absence leads to increased membrane fragility, a loss of linkage across sarcolemma leading to disorganization of the dystrophin associated glycoprotein (DAG) complex
The availability of assays for gene and dystrophin protein have led to appreciation of variability in clinical presentation associated with dystrophin gene mutation[1,6]
Summary
Dystrophinopathies include a spectrum of muscle diseases caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene which encodes the protein “dystrophin”. It presents as DMD or Becker Muscular Dystrophy[1,2]. Cases of DMD usually have dilated cardiomyopathy and a few have hypertrophic cardiomyopathy[3]. Contiguous gene deletion syndromes are disorders with coincident expression of otherwise unrelated inborn errors of metabolism. Xp21 deletion syndrome is a deletion syndrome most frequently affecting the X-linked congenital adrenal hypoplasia, glycerol kinase and dystrophin loci[4]. We present a floppy infant with hypertrophic cardiomyopathy who was subsequently diagnosed as DMD with a strong possibility of contiguous gene deletion syndrome in the family
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