ATAXIA-AUTOSOMAL RECESSIVE

SUMMARY

1. Friedreich’s Ataxia: present with progressive ataxia, areflexia of the lower limbs, impaired vibration/position sense.
2. Ataxia-Telangiectasia: ataxia starting in early childhood & oculocutaneous telangiectasia.

3. Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes: presents with progressive ataxia of gait, stance, and limb movements, dysarthria and oculomotor disorders, with half having impaired vibration or position sense.

Reference(s)

Wilkinson, I., Furmedge, D. and Sinharay, R. (2017). Oxford handbook of clinical medicine. Oxford: Oxford University Press. Get it on Amazon.
Feather, A., Randall, D. and Waterhouse, M. (2020). Kumar And Clark’s Clinical Medicine. 10th ed. S.L.: Elsevier Health Sciences. Get it on Amazon.
Hannaman, R. A., Bullock, L., Hatchell, C. A., & Yoffe, M. (2016). Internal medicine review core curriculum, 2017-2018. CO Springs, CO: MedStudy.
Therapeutic Guidelines. Melbourne: Therapeutic Guidelines Limited. https://www.tg.org.au [Accessed 2021].