Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Enzyme
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Target Concepts:
Gene/Protein
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Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity,
dystonia
, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy.
Galactosylceramidase
activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.
...
PMID:Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up. 775 15
