Pediatric Rehabilitation Lecture Series: Friedreich’s ataxia (enduring material)-Friedreich's ataxia

Video Transcription

Video Summary

In this video, Dr. Jacqueline Omura gives a lecture on Friedrich's Ataxia, a rare genetic disorder that affects the nervous system. She discusses the genetics and pathophysiology of the condition, its clinical features and prognosis, the medical complications associated with it, and rehabilitation interventions. Friedrich's Ataxia is an autosomal recessive condition with an incidence of about one in 40,000. It is characterized by progressive ataxia, lower limb areflexia, impaired sensation, and other symptoms. The disease is caused by insufficient levels of frataxin, a mitochondrial protein that plays a role in iron homeostasis and oxidative stress. The severity of the condition can vary based on the number of GAA triplet repeats on chromosome nine, with more repeats leading to an earlier age of onset and more rapid disease progression. Cardiomyopathy, scoliosis, diabetes, and spastic bladder are common medical complications associated with Friedrich's Ataxia. Currently, there are no FDA-approved treatments for the condition, but research is ongoing, including the investigation of antioxidants and other potential therapies. Rehabilitation interventions focus on optimizing balance, strength, and function, and may involve the use of mobility devices, equipment modifications, and compensatory strategies.

Keywords

Friedrich's Ataxia

genetic disorder

nervous system

pathophysiology

clinical features

medical complications

rehabilitation interventions

GAA triplet repeats

oxidative stress