Abstract
Becker's muscular dystrophy (BMD) has wide spectrum of presentation from asymptomatic to severe progressive muscular weakness. Subtle weakness can be missed in busy outpatient units. Traditionally muscle biopsy is used for definitive diagnosis. But it is invasive and less helpful in genetic counseling of inherited dystrophinopathies compared to genetic studies. Newer techniques like next generation sequencing (NGS) also help in understanding many phenotype-genotype co-relations. We describe here a seven year boy who presented with mild weakness, without any evidence of cardiomyopathy and had exon 46 - 48 deletion on NGS.
Highlights
Weakness in children may have various etiologies like nutritional, metabolic, endocrinal and muscular dystrophy / myopathies
Earlier studies have shown mean age of onset of cardiomyopathy in Becker’s muscular dystrophy (BMD) is 32 years (23 to 43 years). We present one such case of BMD who had deletion of exon 46 - 48 in dystrophin gene
next generation sequencing (NGS) helps in prognosis of the disease course depending on where and how the deletion occurred in the dystrophin gene it should be preferred especially when newer therapies like exon skipping is being used in trails and treatment.[4,8]
Summary
Weakness in children may have various etiologies like nutritional, metabolic, endocrinal and muscular dystrophy / myopathies. Earlier studies have shown mean age of onset of cardiomyopathy in BMD is 32 years (23 to 43 years) We present one such case of BMD who had deletion of exon 46 - 48 in dystrophin gene. Children with this deletion variant have better prognosis of longer ambulation and cardiomyopathy develops latter in such individuals as compared to cases due to other Mutations. Mother noticed that child appeared to be slow in running, and was apprehensive to climb or jump down as compared to peers. He had difficulty to raise from sitting but could comb his hairs and put on his shirt and buttons. Mother was advised for genetic studies and antenatal counselling before pregnancy
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