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

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.

Last updated: 10/1/2011

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
EMG: myopathic abnormalities		0003458
Nemaline bodies		0003798
30%-79% of people have these symptoms
Bradykinesia	Slow movements Slowness of movements [ more ]	0002067
Increased muscle lipid content	Fat accumulation in muscle fibers Fat deposits in muscle fibers Lipid accumulation in skeletal muscle Skeletal muscle lipid accumulation [ more ]	0009058
Increased variability in muscle fiber diameter		0003557
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Neck flexor weakness	Neck flexion weakness	0003722
Paraproteinemia		0031047
Type 1 muscle fiber predominance		0003803
Upper limb muscle weakness	Decreased arm strength Weak arm [ more ]	0003484
5%-29% of people have these symptoms
Bulbar signs		0002483
Difficulty walking	Difficulty in walking	0002355
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Flexion contracture	Flexed joint that cannot be straightened	0001371
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Lower limb muscle weakness	Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ]	0007340
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Muscle fibrillation		0010546
Muscle stiffness		0003552
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Neuromuscular dysphagia		0002068
Reduced vital capacity		0002792
Respiratory insufficiency due to muscle weakness	Decreased lung function due to weak breathing muscles	0002747
1%-4% of people have these symptoms
Mildly elevated creatine kinase		0008180

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Adult-onset nemaline myopathy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Adult-onset nemaline myopathy:
Congenital Muscle Disease International Registry

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
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May 21, 2020

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