Adult-onset nemaline myopathy

Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Nemaline myopathy

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 171442

Disease definition

Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) 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.

Last updated: 10/10/2011

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Patient Registry

The Congenital Muscle Disease International Registry supports research for Adult-onset nemaline myopathy by collecting information about patients with this diagnosis. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

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In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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