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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 171442
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
The annual incidence of NM has been estimated at 1/50,000 live births. Adult- onset NM represents <5% of total cases.
Adult onset NM occurs sporadically between 20 and 50 years of age. It presents with a generalized weakness, myalgia and rapid progression. Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement. Muscle biopsy can reveal inflammatory changes. Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.
Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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