New technologies for sequencing genes are being developed and this means genetic testing is undergoing a major revolution. Most genetic tests have been done “in series”, ie: one test after another. Next generation sequencing (NGS) is a different technology that allows massively parallel sequencing and has resulted in the identification of many new genes associated with ataxia, new patterns of inheritance and new diagnostic pathways. Targeted “panel” tests are increasingly used and are highly reliable, but only have limited numbers of genes. A next generation sequencing panel is now available as an NHS diagnostic service from the Oxford Molecular Genetics Service. This panel includes around 99 genes causing ataxia (with more genes being added as new genes are found).
Interesting Thank goodness for new technologies.I was diagnosed with Spinocerabeller Ataxia Type 6 in 2010 .At the time of my diagnoses my blood was sent to Melbourne for confirmation of the diagnoses .I did not tell my 2 boys at the time (ages 41and 43 ) Currently they show no signs of Ataxia but of course it may develope later.It is a hard call to know when/if to tell them it is possibly generic I am now 76 and my walking has significantly got worse over the last year partially becouse of covid and not being able to excercise as well as my Ataxia gradually getting worse.I have started going to the gym again and doing some yoga.
Good for you! My feeling is that going to the gym to exercise is the way to go. Keeping the legs “strong” is the way to go in helping with balance. 