Inheritance of Duchenne Muscular Dystrophy (DMD) | Genetics Explained by Dr. Ravinder Dimri
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Inheritance of Duchenne Muscular Dystrophy (DMD) | Genetics Explained by Dr. Ravinder Dimri
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YouTubeConceptual Orthopedics
Genetic testing is part of the Duchenne journey. When a child is diagnosed with Duchenne Muscular Dystrophy, one of the first conversations is usually about genetic counselling and carrier testing. What many people don’t realise is this: 👉 Around 30% of boys born with Duchenne have a spontaneous (new) genetic mutation. That means there is no family history, no warning signs, and nothing anyone did wrong. Duchenne is caused by a change in the gene that makes dystrophin, a protein muscles need to
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Genetic testing is part of the Duchenne journey. When a child is diagnosed with Duchenne Muscular Dystrophy, one of the first conversations is usually about genetic counselling and carrier testing. What many people don’t realise is this: 👉 Around 30% of boys born with Duchenne have a spontaneous (new) genetic mutation. That means there is no family history, no warning signs, and nothing anyone did wrong. Duchenne is caused by a change in the gene that makes dystrophin, a protein muscles need to
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DEXA scans play an important role in caring for people living with Duchenne muscular dystrophy. A DEXA (dual-energy X-ray absorptiometry) scan is a simple, non-invasive test that measures bone mineral density, usually in the arm or leg. In Duchenne, bones can become thinner and weaker over time, especially with long-term steroid use and reduced mobility. Weaker bones are more likely to fracture, sometimes from minor falls or even everyday movements. Tracking bone density helps the care team unde
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DEXA scans play an important role in caring for people living with Duchenne muscular dystrophy. A DEXA (dual-energy X-ray absorptiometry) scan is a simple, non-invasive test that measures bone mineral density, usually in the arm or leg. In Duchenne, bones can become thinner and weaker over time, especially with long-term steroid use and reduced mobility. Weaker bones are more likely to fracture, sometimes from minor falls or even everyday movements. Tracking bone density helps the care team unde
2K views9 months ago
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DIAGNOSING DUCHENNE 💉🧬 When there’s a concern that a child might have Duchenne Muscular Dystrophy, the first step is usually a simple blood test to check CK (creatine kinase) levels. 📊 Children with Duchenne often have CK levels 10 to 100 times higher than normal, a strong indicator that something’s not right with muscle health. If CK is elevated, doctors will recommend genetic testing to find the exact DNA change (genetic mutation) that causes Duchenne. 🧠 A genetic counsellor can help inter
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Harrison’s Life with Duchenne Muscular Dystrophy on Instagram: "Genetic testing is part of the Duchenne journey. When a child is diagnosed with Duchenne Muscular Dystrophy, one of the first conversations is usually about genetic counselling and carrier testing. What many people don’t realise is this: 👉 Around 30% of boys born with Duchenne have a spontaneous (new) genetic mutation. That means there is no family history, no warning signs, and nothing anyone did wrong. Duchenne is caused by a cha
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One of our many trips to the ER. RC wasn’t able to keep anything down, and I couldn’t get his fever to break. When your child has Duchenne Muscular Dystrophy, you don’t take chances. Vomiting and fevers can be serious because long-term steroid use can put him at risk for adrenal insufficiency. Dad was completely wiped out once RC started feeling better. 😂 Meanwhile, RC bounced right back, bright-eyed and bushy-tailed. And me? I stayed in full mom mode the entire time, watching every symptom, ev
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