Neurological recovery with interferon-gamma treatment in friedreich's ataxia
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Dosyalar
Tarih
2022
Yazarlar
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Yayıncı
College of Physicians and Surgeons Pakistan
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by a deficiency of frataxin protein. This disease is characterised by severe neurological dysfunction and life-threatening cardiomyopathy. Various drugs are used to slow down / stop the neurodegenerative progress. However, recent clinical trials and animal experiments demonstrate that interferon- gamma (IFN-?) treatment might improve signs of FA as well. A 9-year-old girl was admitted to our hospital with gait instability, mild dysarthria, and sensorimotor polyneuropathy. Her genetic examination was consistent with FA. IFN-? treatment was started 3 times a week. The treatment was evaluated by physical examination and side effects assessment. Friedreich Ataxia Rating Scale (FARS), 9- hole peg test (9HPT), and time of 25-foot walk (T25FW) were measured. Ataxia and cerebellar findings improved within 9 months. Although clinical neurological improvement was achieved, there was no improvement in cardiomyopathy. © 2022 College of Physicians and Surgeons Pakistan. All rights reserved.
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Anahtar Kelimeler
Cardiomyopathy, Children, FARS, Friedreich ataxia, Interferon-gamma, gamma1b interferon, idebenone, metoprolol, ubiquinone, gamma interferon, areflexia, arm movement, Article, case report, child, clinical article, convalescence, dysarthria, dysmetria, echocardiography, electrocardiogram, electromyography, female, finger to finger test, finger to nose test, flu like syndrome, follow up, Friedreich ataxia, Friedreich Ataxia Rating Scale, genetic analysis, hammertoe, heart left ventricle hypertrophy, human, hypertrophic cardiomyopathy, motor dysfunction, motor function test, nerve conduction velocity, neurologic disease assessment, neurologic gait disorder, nine hole peg test, pes cavus, physical examination, physiotherapy, school child, sensorimotor neuropathy, walk test, cardiomyopathy, complication, Friedreich ataxia, walking, Cardiomyopathies, Female, Friedreich Ataxia, Humans, Interferon-gamma, Walking
