Disease - Spinocerebellar ataxia, autosomal recessive, 24

Disease - Spinocerebellar ataxia, autosomal recessive, 24


This type of information is useless for me as I don’t understand how to interpret them. I could use a short version that is simple to understand. Does anyone know how to interpret this info. Jerry


Alas, simple easy read medical communications are a big issue,
although there is plenty of Medical Communication companies, very keen to address this. but it seems a very slow process.

Alan (Wales, Ataxia / rare disease warrior)

Most information of this type just makes me switch off😏
Although, usually I can ‘pick the bones’ out of it and understand the basics.

What it boils down to is, all the SCAs have the same basic characteristics. These can vary enormously in progression and deterioration. Both of these are notoriously difficult for Neurologists to predict, even within the same family.

SCAR24 exists from childhood. It’s passed on by carriers who are themselves unaffected. Both parents are carriers of a mutant gene. :slightly_smiling_face:xB

Recessive means that both parents gave to carry the gene. They can or cannot have the characteristic. If both parents carry the gene and do not have the characteristic the chance of a child having the characteristic is one in four. If a parent has the characteristic and the other carries the gene, the chance is one in two. Remember that we get one gene from each of our parents. If only one gene is necessary to have the characteristic, it is dominant. If two are needed, the characteristic is recessive. Autosomal means that it is not a sex-related characteristic, so both genders can have it. Hope this helps

Many Thanks

one thing that I always say, in the medical communication arena, is to have a Summary of the Summary

Alan, I’ve just come across a family coping with this type. On one of the Facebook Ataxia Support Groups. :expressionless:xB

perhaps a post offering a pionter to more support groups, is in order