Clinical and Neuroradiological Features of Hereditary Ataxia Patients: Hospital Based Study
Abstract Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait, limbs and speech. It usually results from disorders in cerebellum or its connections. It is disorder of rate, range, direction and force of movements. Aim of the Work to investigate and identif...
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Veröffentlicht in: | QJM : An International Journal of Medicine 2020-03, Vol.113 (Supplement_1) |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Abstract
Background
Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait, limbs and speech. It usually results from disorders in cerebellum or its connections. It is disorder of rate, range, direction and force of movements.
Aim of the Work
to investigate and identify the prevalence of hereditary ataxias regarding clinical and radiological.
Subjects and Methods
our study is composed of 23 patients, (their age range from 15 years old to 40 years old).We study the effect of positive family history and consanguinity on the prevalence of hereditary ataxias. We assess patients functionally using SARA score.
Results
there was positive relationship between positive family history and consanguinity and appearance of disease in cases so, it is important to ask about family history, similar condition and do family pedigree to know mode of inheritance if possible. Also, we found positive correlation between duration of disease and SARA score. There was positive correlation between MRI brain finding (cerebellar atrophy or brain stem atrophy), neurophysiological studies (axonal neuropathy) and disease.
Conclusion
positive family history and consanguinity are risk factors for hereditary ataxias. SARA score is a useful tool to assess hereditary ataxias functionally. MRI brain and neurophysiological studies are useful tools to diagnose hereditary ataxias. |
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ISSN: | 1460-2725 1460-2393 |
DOI: | 10.1093/qjmed/hcaa054.009 |