Rare Nephrology News
Disease Profile
Adult-onset nemaline myopathy
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Adult
ICD-10
G71.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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.
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.
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.
| 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 |
Stretched and thinned heart muscle
|
0001644 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Flexion |
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 |
|
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 |
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 | |
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.