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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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

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

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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.

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)

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.
orphanet

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.

Clinical description
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.

Etiology
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 hypotonia
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
Micrognathia
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
Ptosis
Drooping upper eyelid
0000508
Scoliosis
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.