Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
Sep 7, 2021
sareptatherapeutics.ch
Duchenne muscular dystrophy (DMD) is a devastating genetic condition that results in progressive muscle weakness, spinal deformities, heart failure and early mortality. While genetic therapies are being explored, current treatments only alleviate symptoms. However, MCW’s Dr. Brian Lin and his lab are researching a promising approach that examines a calcium channel which becomes hyperactive in DMD and how inhibiting that channel could counteract the leading cause of death in DMD patients. Learn m
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When it comes to Duchenne Muscular Dystrophy, what a parent sees is more than just the diagnosis, it’s the quiet courage behind every struggle. She sees her child endure long stretches when he’d rather be playing. She watches lose a little physical strength every day and try to find solutions to find other ways to continue with his favourite activities, if possible, or invest time into other or new interests. Parents help their child get ready for therapies when he’d rather just stay home and be
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💡 What does “severe phenotype” mean in Duchenne muscular dystrophy (DMD)? When doctors talk about a phenotype, they’re referring to the way a condition shows up in someone’s body, the physical traits and symptoms that result from their genetics. In Duchenne, a severe phenotype usually means the condition progresses more quickly, often with earlier loss of abilities like walking, climbing stairs, or raising arms. This can also bring earlier complications with breathing, heart health, and other a
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💡 What does “severe phenotype” mean in Duchenne muscular dystr…
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