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  3. Adult-onset nemaline myopathy
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Adult-onset nemaline myopathy


Title


Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Nemaline myopathy

Summary Summary


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

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


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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.

Showing of 27 |
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
Showing of 27 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Research Research


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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


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
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You can help advance rare disease research!
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