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Duchenne Muscular Dystrophy

You might already know about it by now.

Few useful references for more details about DMD, symptoms etc this link should be helpful.

In summary,

Duchenne Muscular Dystrophy - An X linked recessive rare genetic disorder which can be de-novo (not inherited) as well. Causes break in the exon pattern of dystrophin protein (largest protein in human body, present in muscles), which is thought of the primary reason behind the symptoms which are muscle waste and weakness which can start from lower limbs and gradually can spread to all parts, including heart and respiratory organs resulting in non-ambulation etc.

Males have XY chromosomes, so if X is defected causes problems. Females have XX chromosomes so even if one X is defected they don't usually have any symptoms. But they can be carriers. Males can't pass it on to a offspring.

Also, just to add (IMO) - the real reason of the DMD symptoms are not fully known, it's just that absence of dystrophin is confirmed and symptoms are present, so it is thought that they are related. And to some extent, increasing dystrophin expression does help. But studies are going on, and many clinical trials of therapies which increase dystrophin expression are going on. [17th July 2023]. There are lot of other factors in play for example -  immune responses which are faulty lead to muscle inflammation and damage.

[I will keep adding more details, and my understanding of the disease here]

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