| Autor: |
Sangharsha Thapa, Sangam Shah, Swati Chand, Sanjit Kumar Sah, Pawan Gyawali, Sandip Paudel, Pitambar Khanal |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2050-0904 |
| DOI: |
10.1002/ccr3.6303 |
| Popis: |
Abstract Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal‐recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory loss. The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E supplementation improves symptoms and prevents the progression of the disease. In this case report, we reviewed the recently updated findings in AVED in regard to the management and present a case of AVED in a 16‐year‐old boy, who was initially misdiagnosed as FRDA, prior to the genetic test. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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