Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that primarily causes ataxia or that presents ataxia as one of a multitude of symptoms. Evaluation should focus on a quick diagnosis for those that have treatment options and for those that require other systemic monitoring. Friedreich ataxia is the most common, and genetic testing can easily confirm the suspicion. Testing for vitamin E (for ataxia with isolated vitamin E deficiency) and alpha fetoprotein (for Ataxia Telangiectasia or AT) are important, as is empiric treatment with coenzyme Q10 for those genetic abnormalities that can lead to coenzyme Q deficiency. Clear family history, disease progression, physical examination focusing on type of ataxia and other associated neurologic features, and investigation of systemic involvement can help in focusing clinical assessment.
 ...
PMID:Pediatric Ataxia: Focus on Chronic Disorders. 2973 17