Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 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.
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PMID:Ocular findings in a patient with Kugelberg-Welander syndrome: a case report. 73 21

Weakness of the external eye muscles was believed to be of genetic origin in 94 of 97 patients studied and was familial in 73 patients. Thirty patients had congenital ptosis alone or with weakness of other ocular muscles. The lack of progression and high incidence of other congenital anomalies suggested that congenital ptosis had in most instances a development etiology. Neurogenic congenital ptosis was documented in one instance and was suspected in another patient. The most common causes of progressive ophthalmaplegia with onset after birth was myotonic dystrophy and ocular muscle dystrophy. On clinical and genetic grounds, ptosis associated with retinitis pigmentosa was considered as a distinct disease and there was no conclusive evidence that ocular muscle dystrophy and oculopharyneal dystrophy were separate diseases. The relatively high incidence of familial myasthenia gravis was probably due to the selection of the patients. Two pairs of sibs with "chondrodystrophic myotonia" were included in the study. Progressive external ophthalmoplegia with onset after birth was neurogenic in three instanced. It accompanied motor neuron disease, Kugelberg-Welander disease and an undertermined disease affecting the central and peripheral nervous system, each in one patient.
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PMID:Hereditary ptosis. 517 28