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Disease Profile
Severe congenital 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
Infancy
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)
Severe congenital nemaline myopathy; Severe congenital (neonatal) NM
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 171430
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Axial muscle weakness | 0003327 | |
Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
Increased connective |
0009025 | |
Motor delay | 0001270 | |
Multiple prenatal fractures |
Multiple fractures present at birth
Multiple fractures, present at birth
Numerous multiple fractures present at birth
Numerous multiple fractures that are present at birth
[ more ] |
0005855 |
Nemaline bodies | 0003798 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Respiratory failure | 0002878 | |
Severe muscular |
Severely decreased muscle tone
|
0006829 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Type 1 muscle fiber predominance | 0003803 | |
5%-29% of people have these symptoms | ||
Abnormality of the diaphragm |
Diaphragm issues
Diaphragmatic defect
[ more ] |
0000775 |
Adducted thumb |
Inward turned thumb
|
0001181 |
Arthrogryposis multiplex congenita | 0002804 | |
Edema of the dorsum of hands | 0007514 | |
Facial diplegia | 0001349 | |
Hypospadias | 0000047 | |
Large fontanelles |
Wide fontanelles
|
0000239 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Thin ribs |
Slender ribs
|
0000883 |
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.