Cerebrotendinous xanthomatosis (NORD)

Cerebrotendinous xanthomatosis, also called CTX, is a rare genetic disorder caused by alterations in the CYP27A1 gene that adversely affect the body’s ability to convert cholesterol to the bile acids chenodeoxycholic acid and cholic acid.




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[mogaliz]

My son is a carrier for this. He did have bile issues when he was born but that has since cleared up and no further issues.

[cenkhaznac]

Thank you for this video. My sister was diagnosed with CTX this summer, at the age of 43. I likely am a carrier but that is to be confirmed with genetic testing. It is so sad that diagnosis came so late for my sister. The medication, Chenodeoxycholic Acid, is stupendously expensive. We were told it costs around $25, 000 a month. Thankfully, the Government of Turkey where my sister resides is covering it, for now... Especially in disproportionately affected populations, doctors should be re-trained to recognize this disease. There are crystal clear tell-tale signs... Prevention efforts are almost non-existent. People keep saying this is a very rare disease, I keep telling them this is a very-rarely-diagnosed disease. Not the same thing.

[lillyrocks]

How hard may be the diagnosis. Hope more doctors are interested ti know about these illnesses.

[balasundaram]

ataxia which is 100% treatable in adults by udca for 6 months.

[martabyczkowska]

U córki również zdiagnozowano tą chorobę w wieku 10lat. Ma już objawy choroby, jest po operacji zaćmy obuocznej, biegunki, padaczka i wiele innych. Przyjmuje lek, cena jego na tą chwilę to 95tys zł. 😢

[XavierAway]

We need to embrace re-embrace eugenics, badly. All this genetic ailments are totally avoidable.