The diagnosis of ataxia for your child is a difficult experience for any parent.
Ataxia is a very complex disease and can be challenging to understand and diagnose, especially
when working with young children. In simple terms, ataxia can be interpreted as impaired
coordination and medically understood as a disease of the nervous system. This can
impact balance, speech, and fine motor skills. Additionally, it is not a singular condition but instead a
symptom to underlying neurological concerns.
When recognizing the development of ataxia it is important to be aware of the various forms
that can be present. Prominently, deciphering whether the ataxia is acute or chronic is crucial.
Following this, most cases of acute ataxia stem from underlying causes, while chronic ataxia can
arise from either primary or secondary factors. The diagnostic process consists of a thorough
neurological and physical examination, as well as review of medical and family history. In some
cases brain imaging tests are needed to make further distinctions, including MRI or CT scans.
Following the diagnosis, the focus shifts to managing symptoms and, if identifiable,
addressing the underlying cause. While advances have been aquired for some disorders that
correlate to ataxia in recent years, most hereditary disorders that are associated with it are not fully
treatable. At present, treatments are limited to addressing vitamin E deficiency and ataxia alongside
coenzyme Q deficiency. Although there is an increasing number of disorders undergoing clinical
trials and product development, the focus primarily revolves around only two forms of ataxia,
Friedreich ataxia and Ataxia Telangiectasia. Symptoms can be alleviated and improved through
other remedies such as occupational, speech, and physical therapy, medications and adaptive
technology. Additionally, comprehensive genetic testing results can help eliminate the possibility of
other medical conditions, offering clarity and accuracy in diagnosis. The insights gained from an
in-depth genetic analysis not only aid in ruling out alternative diseases but also empower patients
and their families with knowledge to make informed decisions about their healthcare and familial
risks.
Most importantly, it is essential to care for your child emotionally and physically, and
approach this disease with a well informed mindset. Continue to educate yourself about ataxia in
order to advocate and support your child effectively. With appropriate care, many children with
ataxia have fulfilling lives and are capable of achieving their goals and aspirations. Embrace the
journey, celebrate milestones, and remember that you are not alone. Together, as a family and with
the support of healthcare professionals and community resources, you can navigate the challenges
of ataxia and help your child thrive.
David R. Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula, Pediatric Ataxia: Focus on
Chronic Disorders, Seminars in Pediatric Neurology, Volume 25, 2018, Pages 54-64, ISSN
1071-9091, https://www.sciencedirect.com/science/article/abs/pii/S1071909118300019