[Chronic ataxia in childhood].
Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.
Neurología pediátrica, Universidad de Chile, Chile. E-mail: ricardoerazo@yahoo.com.
Ricardo
R
Erazo Torricelli
D001259:Ataxia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014451:Ubiquinone / Q000172:deficiency / Q000235:genetics
D014451:Ubiquinone
Friedreich's ataxia; autosomal dominan; autosomal recessive; chronic ataxia; congenital; mitochondrial