Adult-onset nemaline myopathy
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 171442
Definition
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births. Adult- onset NM represents <5% of total cases.
Clinical description
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.
Genetic counseling
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
Symptoms
Symptoms and their Known Frequencies
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