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:C0026850 (
muscular dystrophy
)
5,870
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A four-year-old female child with Kugelberg-Welander syndrome has been presented. She demonstrated ptosis,
exotropia
, and decreased vision with unilateral high myopia. Unlike the Werdnig-Hoffman type of spinal
muscular dystrophy
Kugelberg-Welander disease has a protracted, somewhat benign course, necessitating proper evaluation and care of the ocular problems of these patients. The most common among these problems are the presence of severe to moderate ptosis and strabismus which appears usually to be an
exotropia
.
...
PMID:Ocular findings in a patient with Kugelberg-Welander syndrome: a case report. 73 21
