summary Friedreich's Ataxia is an inherited disorder that leads to spinocerebellar degeneration due to an autosomal recessive mutation in the frataxin gene. The condition presents with ataxia, cardiomyopathy, motor weakness, cavovarus foot deformity, and scoliosis usually from age 7 to 25 year. Diagnosis is made with genetic testing to assess for the absence of the frataxin gene. Treatment is initially nonoperative. Corrective surgery for symptomatic cavovarus foot deformity and progressive scoliosis may be indicated over time. Epidemiology Incidence 1 in 50,000 births Demographics onset usually between 7 and 25 years age of onset related to number of GAA repeats Etiology Genetics autosomal recessive repeat mutation leads to lack of frataxin gene frataxin is a mitochondrial protein involved in iron metabolism and oxidative stress mutation is GAA repeat at 9q13 Associated conditions pes cavovarus foot scoliosis predictors of progression onset of disease is less than 10 years of age onset of scoliosis is before 15 years of age cardiomyopathy cardiology evaluation before surgery antioxidants (Coenzyme Q) have been shown to decrease rate of cardiac deterioration but have no effect on ataxia Presentation Symptoms ataxia staggering wide based gait (spinocerebellar) Physical exam classic triad ataxia areflexia positive plantar response weakness nystagmus cavovarus foot very high arch rigid deformity associated claw toes scoliosis Imaging Radiographs recommended views standing scoliosis series AP and lateral of foot if pes cavovarus present Studies EMG shows defects in motor and sensory with an increase in polyphasic potentials nerve conduction velocities are decreased in upper extremities Treatment Cavovarus foot nonoperative observation indications only indicated in nonambulatory patient deformity is rigid and progressive and resistant to bracing and stretching as treatment operative plantar release, transfers, +/- metatarsal and calcaneal osteotomy indications early disease in ambulatory patient triple arthrodesis indications late disease in nonambulatory patients Scoliosis nonoperative observation indications curves < 40 degree without predictors of progression (see above) operative PSF and instrumentation indications curve > 60 degrees rapid progression with positive predictors of progression onset of disease is less than 10 years of age onset of scoliosis is before 15 years of age usually does not need to be extended to pelvis Prognosis Usually wheelchair bound by age 30 Usually die by age 50 from cardiomyopathy
QUESTIONS 1 of 2 1 2 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ04.203) All of the following are true regarding Friedreich's ataxia EXCEPT? QID: 1308 Type & Select Correct Answer 1 It is caused by a repeat mutation in the frataxin gene 4% (86/2000) 2 Physical exam shows ataxia, loss of deep tendon reflexes, and extensor Babinski response 4% (74/2000) 3 There is neuronopathy in the dorsal root ganglia, accompanied by the loss of peripheral sensory nerve fibers. 24% (488/2000) 4 There is progressive loss of alpha-motor neurons in the anterior horn of the spinal cord 59% (1184/2000) 5 Age of onset is usually between 7 and 15 years 8% (154/2000) L 3 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic
All Videos (1) Podcasts (0) Login to View Community Videos Login to View Community Videos Friedreich's Ataxia - Physical Exam Findings Derek W. Moore Pediatrics - Friedreich's Ataxia B 9/5/2012 4081 views 5.0 (16)