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Disease Profile
Childhood-onset nemaline myopathy
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.
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Age of onset
Childhood
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
Other names (AKA)
Mild nemaline myopathy
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 171439
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 |
Clumsiness | 0002312 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Generalized limb muscle atrophy |
Generalized muscle wasting
|
0009055 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
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 | |
Limb muscle weakness |
Limb weakness
|
0003690 |
Motor delay | 0001270 | |
Muscle stiffness | 0003552 | |
Neuromuscular |
0002068 | |
Spinal rigidity |
Reduced spine movement
|
0003306 |
Type 1 muscle fiber predominance | 0003803 | |
5%-29% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
Bulbar signs | 0002483 | |
Disease of the heart muscle
|
0001638 | |
Facial diplegia | 0001349 | |
Fatigable weakness of bulbar muscles | 0030192 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Fetal akinesia sequence | 0001989 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
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 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Mildly elevated creatine kinase | 0008180 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Neck muscle weakness |
Floppy neck
|
0000467 |
Pes cavus |
High-arched foot
|
0001761 |
Reduced vital capacity | 0002792 | |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Scapular winging |
Winged shoulder blade
|
0003691 |
0002650 | ||
Slender build |
Thin build
|
0001533 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
1%-4% of people have these symptoms | ||
Arthrogryposis multiplex congenita | 0002804 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Drooping upper eyelid
|
0000508 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Childhood-onset nemaline myopathy. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Childhood-onset nemaline myopathy. Click on the link to view a sample search on this topic.