Linked Life Data

2926439

Source:http://linkedlifedata.com/resource/pubmed/id/2926439

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1989-5-5
pubmed:abstractText
A clinical follow-up of 12 patients with congenital nemaline myopathy (CNM) is reported. The aims of the study were to characterise the disease further, to investigate the prognosis of CNM and the factors influencing it, to find guidelines for treatment and, through neuropsychological tests, electroencephalography and computed tomography of the head, to determine whether the central nervous system is affected. The following distribution of muscular weakness was constantly found: the weakest muscles were the facial muscles, the flexors of the neck and trunk, the dorsiflexors of the feet and the extensors of the toes. The distal limb muscles and the limb-girdle muscles were clearly weaker than the proximal limb muscles. No signs of involvement of the central nervous system were detected, and IQs showed a skew towards higher levels. The clinical state of health had deteriorated in 10 of the 12 patients and improved in 2. In addition to the grade of disease activity, prognosis seemed to be influenced mainly by the development of scoliosis and by the restricted respiratory capacity. Since no specific therapy is available for this disease, recommendations for the management of CNM include active rehabilitation and vigorous treatment of respiratory infections. Physiotherapy should focus especially on the maintenance of cardiorespiratory capacity and the prevention and treatment of scoliosis. Long periods of immobilisation should be avoided.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-14
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Congenital nemaline myopathy. A clinical follow-up of twelve patients.
pubmed:affiliation
Children's Hospital, University of Helsinki, Finland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't