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Disease Profile

Severe 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Severe congenital nemaline myopathy; Severe congenital (neonatal) NM

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.
orphanet

Orpha Number: 171430

Definition
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases.

Clinical description
Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. Survival after infancy is rare.

Etiology
The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.

Genetic counseling
NM is transmitted in an autosomal recessive fashion or occurs sporadically.

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
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
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hypokinesia
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements

[ more ]

0002375
Increased connective tissue
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 hypotonia
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.