Introduction The most common form of spinocerebellar degenerative diseases characterized by lesions in the dorsal root ganglia corticospinal tracts dentate nuclei in the cerebellum sensory peripheral nerves Epidemiology 1 in 50,000 births onset usually between 7 and 25 years age of onset related to number of GAA repeats 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 Prognosis usually wheelchair bound by age 30 usually die by age 50 from cardiomyopathy 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 (see above) usually does not need to be extended to pelvis
QUESTIONS 1 of 2 1 2 Previous Next (OBQ04.203) All of the following are true regarding Friedreich's ataxia EXCEPT? Review Topic QID: 1308 1 It is caused by a repeat mutation in the frataxin gene 4% (73/1711) 2 Physical exam shows ataxia, loss of deep tendon reflexes, and extensor Babinski response 3% (58/1711) 3 There is neuronopathy in the dorsal root ganglia, accompanied by the loss of peripheral sensory nerve fibers. 25% (424/1711) 4 There is progressive loss of alpha-motor neurons in the anterior horn of the spinal cord 60% (1020/1711) 5 Age of onset is usually between 7 and 15 years 7% (123/1711) ML 3 Select Answer to see Preferred Response PREFERRED RESPONSE 4 Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK
Upgrade to View Premium Videos Upgrade to View Premium Videos Friedreich's Ataxia - Physical Exam Findings Derek Moore Pediatrics - Friedreich's Ataxia 9/5/2012 3541 views