Clinical Neurogenetics: Friedreich Ataxia

Friedreich ataxia is the most common autosomal recessive ataxia. It is a progressive neurodegenerative disorder, typically with onset before 20�years of age. Signs and symptoms include progressive ataxia, ascending weakness and ascending loss of vibration and joint position senses, pes cavus, scoliosis, cardiomyopathy, and arrhythmias. There are no disease-modifying medications to either slow or halt the progression of the disease, but research investigating therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis is ongoing. Clinical trials of promising medications are underway, and the treatment era of Friedreich ataxia is beginning. (Source: Neurologic Clinics)

Source: http://www.medworm.com/index.php?rid=7720129&cid=u_0_25_f&fid=33237&url=http%3A%2F%2Fwww.neurologic.theclinics.com%2Farticle%2FS0733-8619%2813%2900059-5%2Fabstract%3Frss%3Dyes

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