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Core Information
Disease Name
Deafness, Autosomal Dominant 67
Standard Disease Name
deafness, autosomal dominant 67
MeSH Tree
No data
ICD-10
G72.41
Identifiers
DO ID
No data
MeSH ID
D018979
OMIM ID
147421
UMLS ID
C0238190
HPO ID
No data
Description and Extensions
Description
NCI2016_NICHD_1602D:A rare form of progressive muscle disease that is notable for cytoplasmic granules and vacuoles in the muscle with little inflammation, and is usually refractory to treatment. Usually symptoms begin after the age of fifty.|NCI2016_02D:An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues.|MSH2017_2016_08_12:Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)
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