Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0016719 (
Friedreich's ataxia
)
2,098
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have studied a man with an atypical form of
Friedreich's ataxia
(
FRDA
), who presented at age 26 years with a 2-year history of unsteadiness and
clumsiness
. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1,040/690. This unusual
FRDA
presentation is not dissimilar to that of Acadian spastic ataxia.
...
PMID:Friedreich's ataxia presenting as adult-onset spastic paraparesis. 1073 7
