A fatal central nervous system disorder caused by a copy...

Transcript

00:01 So here let us look at the question.

00:02 The question is about charcot -marie -tooth disease.

00:07 Charco -merry -th -th disease.

00:12 So what is this disease and how it is majorly caused? so this is a disease which is caused by a group of or we can say it is a group of inherited disorders.

00:25 And this is going to cause the nervous damage.

00:29 Basically the damage is to our brain and commonly we can find this issue into the arms and the leg of the patient basically our peripheral nerves okay so charkovarid disease is also called as hereditary motor or it can be also because of sensory neuropathy into this condition we would see that the patient who is suffering for all this nervous damage is having a lot of the weak muscles right there is also loss of sensation into the muscle muscle contraction is affected so that is going to affect the mobility and the movement of these muscles so the person might be even have difficulty in getting up so these are some basic parameters that you would observe a basic symptoms that you would observe and all of these symptoms usually develop into the adolescence age or the adolescence stage or in the early adulthood but it can also start to develop into the mid -night of the patient so now usually as i as you mentioned that it's a genetic inherited disorder here into this you would see it is affecting one out of 2 ,500 people so researchers have discussed that this is majorly operating because of a genetic defect onto the chromosome number 17 and onto the p arm of this chromosome.

02:09 So how it occurs when you have this particular gene, right, it is a very large gene which is present onto a short arm.

02:19 Okay...

Question

A fatal central nervous system disorder caused by a copy number variation, in which more than 35 repetitions of a particular set of three base pairs are present is

Question

A fatal central nervous system disorder caused by a copy number variation, in which more than 35 repetitions of a particular set of three base pairs are present is

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