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:C0013911 (
emaciation
)
1,059
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a Japanese family with hereditary spinocerebellar ataxia characterized by initial
emaciation
and myoclonus. The proband first noted truncal ataxia, myoclonus in the shoulder and general
emaciation
at age 24. The other affected members of the family also had such
emaciation
in the early stage of the disease. The DNA analyses of the family revealed that the patients of the family are associated with the expansions of CAG repeats for
Machado-Joseph disease
(
MJD
) on the long arm of chromosome 14. Although the clinical features of
MJD
are very variable, general
emaciation
in an early stage of the disease and systemic myoclonus have not been documented. Because it is sometimes difficult to distinguish among hereditary spinocerebellar ataxias such as spinocerebellar ataxia type 1 (SCA1) or dentatorubropallidoluysian atrophy (DRPLA) by clinical features, a genetic examination provides better understanding of such a rare and ambiguous type of hereditary spinocerebellar ataxia.
...
PMID:A Japanese family with Machado-Joseph disease characterized by initial emaciation and myoclonus. 2428 29
