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Case:: 27 27-Year-Old Sibling
Case:: 27 27-Year-Old Sibling
At 35 years of age, Jack had progressive symmetric muscle weakness (proximal>distal) and
recurrent cramping during exercise. He was worked up by a neurologist for dystrophinopathy and
was referred to a geneticist. He was diagnosed with Becker muscular dystrophy (BMD) on DNA
testing.
He moved back to Iloilo City and came to you for consultation. He was concerned about the risk
of having affected children and wanted to check if his daughters were carriers. You advised
genetic testing.
Jack is married to Jill, and they have monozygotic twin female babies who, upon genetic testing,
were found to be carriers for the DMD mutation.
Jack has 4 siblings, 2 boys (ages 29 and 26) and 2 girls (ages 27 and 25), tested for BMD.
Jill is 36 years old and has 2 female siblings, ages 33 and 28 years old.
Her 33-year-old sister has 2 living children and 1 spontaneous abortion on her third
pregnancy. She has two boys (4 and 3 years old) who have G6PD deficiency.
Jill’s 64-year-old mother has diabetes, while her father is deceased and expired at 65
years old due to lung cancer.