TY - JOUR
T1 - Child Neurology
T2 - Friedreich ataxia with upper motor neuron findings
AU - Harvey, Elizabeth A.
AU - Jones, Kimberly S.
N1 - Publisher Copyright:
© 2018 American Academy of Neurology.
PY - 2018/8/28
Y1 - 2018/8/28
N2 - A 16-year-old boy with hypertrophic cardiomyopathy, gait abnormalities, and balance problems was found to have Friedreich ataxia. Though Friedreich ataxia typically renders patients areflexic, this child had upper motor neuron findings of spasticity in both lower extremities, with crossed adductors, and 4+ deep tendon reflexes at the patella and Achilles bilaterally. This unusual presentation of an uncommon genetic disorder led to uncertainty of the patient's true diagnosis until genetic testing confirmed that he had 2 alleles with the Friedreich ataxia mutation.
AB - A 16-year-old boy with hypertrophic cardiomyopathy, gait abnormalities, and balance problems was found to have Friedreich ataxia. Though Friedreich ataxia typically renders patients areflexic, this child had upper motor neuron findings of spasticity in both lower extremities, with crossed adductors, and 4+ deep tendon reflexes at the patella and Achilles bilaterally. This unusual presentation of an uncommon genetic disorder led to uncertainty of the patient's true diagnosis until genetic testing confirmed that he had 2 alleles with the Friedreich ataxia mutation.
UR - http://www.scopus.com/inward/record.url?scp=85052723583&partnerID=8YFLogxK
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U2 - 10.1212/WNL.0000000000006086
DO - 10.1212/WNL.0000000000006086
M3 - Article
C2 - 30150266
AN - SCOPUS:85052723583
SN - 0028-3878
VL - 91
SP - 426
EP - 428
JO - Neurology
JF - Neurology
IS - 9
ER -