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:C0030552 (
paresis
)
5,831
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Hereditary optic atrophy
is a significant cause of optic atrophy in children. We report two male siblings who suffered profound irreversible loss of vision over a 2-month period. Neither patient had any prior ophthalmic problems. Both siblings had a metabolic disorder characterized by transient episodes of ataxia and
paresis
, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. Respiratory chain defect in complex I was confirmed in one patient.
...
PMID:Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain. 1154 82
