Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?
| Autor: | Orlando Graziani Povoas Barsottini, Fernanda Aparecida Maggi, Rubens Paulo Araújo Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, José Luiz Pedroso |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male congenital hereditary and neonatal diseases and abnormalities Pes cavus medicine.medical_specialty Pathology Ataxia Neurology Late onset Scoliosis Audiology Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease medicine Humans Age of Onset business.industry Steppage gait medicine.disease nervous system diseases 030104 developmental biology Friedreich Ataxia Neurology (clinical) Age of onset medicine.symptom Differential diagnosis business 030217 neurology & neurosurgery |
| Zdroj: | Cerebellum (London, England). 16(2) |
| ISSN: | 1473-4230 |
| Popis: | Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink