Rare Nephrology News
Disease Profile
Typical congenital 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.
1-9 / 100 000
Age of onset
Neonatal
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)
Typical nemaline myopathy
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: 171436
Definition
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the typical form to represent about 50% of all cases.
Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life.
Typical NM is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes , and disease transmission can be autosomal recessive or dominant.
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
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Axial muscle weakness | 0003327 | |
| Fatigable weakness of distal limb muscles | 0030198 | |
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
| Increased variability in muscle fiber diameter | 0003557 | |
| Limb-girdle muscle weakness | 0003325 | |
| Neck flexor weakness |
Neck flexion weakness
|
0003722 |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Type 1 muscle fiber predominance | 0003803 | |
| 5%-29% of people have these symptoms | ||
| Arthrogryposis multiplex congenita | 0002804 | |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
| Facial diplegia | 0001349 | |
| Fatigable weakness of respiratory muscles | 0030196 | |
| Fatiguable weakness of proximal limb muscles | 0030200 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Genu valgum |
Knock knees
|
0002857 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
| Nemaline bodies | 0003798 | |
| Nocturnal hypoventilation | 0002877 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| Spinal rigidity |
Reduced spine movement
|
0003306 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
| 1%-4% of people have these symptoms | ||
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
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.