Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?
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.
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Rubens Paulo A
RPA
Salomão
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Maria Thereza Drumond
MTD
Gama
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Flávio Moura
FM
Rezende Filho
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Fernanda
F
Maggi
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com.
José Luiz
JL
Pedroso
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Orlando G P
OGP
Barsottini
D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male
Charcot–Marie–Tooth disease; Friedreich’s ataxia; Hereditary ataxias; hereditary neuropathies
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