Hi, this is Tom, and in this episode, I'm going to be going through muscular dystrophy.

And you can find notes at 0.0.2finals.com slash muscular dystrophy and in the 0 to Finals

Pediatrics book. And you can find flashcards and questions to train your knowledge at members.0.0.0.com.

So let's jump straight in.

Muscular dystrophy refers to a group of genetic conditions that cause gradual weakening and wasting

of the muscles.

Duchenne muscular dystrophy is the most common type in children.

Other types include Becker Muscular Dystrophy,

myotonic dystrophy, fasciuscapulohumeral muscular dystrophy,

oculopharangil muscular dystrophy,

limb girdle muscular dystrophy, and Emery Dreyfal muscular dystrophy, limb girdle muscular dystrophy, and emery-drey-dreyfus muscular dystrophy.

Let's talk about Duchenne muscular dystrophy. Duchen muscular dystrophy is caused by a faulty gene on the X-chromosone that makes dystrophin, which is a protein that holds muscles together

at the cellular level. The condition is inherited in an X-linked recessive pattern. Since males only

have one X-chromosone, the fa dystrophin gene will cause the disease.

Females have two X chromosomes, so if only one of those X chromosomes is affected, they are

carriers and do not have symptoms.

A female carrier has a 50% chance of passing the faulty gene onto each child.

Sons who inherit the gene will develop Duchenne muscular dystrophy,

while daughters who inherit one copy will become carriers.

Boys typically present with pelvic muscle weakness at ages 2 to 5 years.

The weakness tends to be progressive and eventually most muscles will be affected.

They usually require a wheelchair by the age of 10 to 13.

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