Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia.
J Coll Physicians Surg Pak
; 32(5): 671-673, 2022 May.
Article
en En
| MEDLINE
| ID: mdl-35546709
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-É£) 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-É£ 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. Key Words: Interferon-gamma, Friedreich ataxia, FARS, Children, Cardiomyopathy.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia de Friedreich
/
Caminata
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Cardiomiopatías
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
Límite:
Female
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Humans
Idioma:
En
Revista:
J Coll Physicians Surg Pak
Asunto de la revista:
MEDICINA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Pakistán