National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Intermediate congenital nemaline myopathy


Other Names:
Intermediate congenital NM; Intermediate nemaline myopathy
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 171433

Definition
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.

Clinical description
Neonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures.

Etiology
The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2011

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Generalized muscle weakness 0003324
Nemaline bodies 0003798
Severe muscular hypotonia
Severely decreased muscle tone
0006829
30%-79% of people have these symptoms
Abnormality of the thorax
Abnormality of the chest
0000765
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Difficulty walking
Difficulty in walking
0002355
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
EMG: myopathic abnormalities 0003458
Hypokinesia
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] 		0002375
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
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
Myopathic facies 0002058
Polyhydramnios
High levels of amniotic fluid
0001561
Respiratory failure 0002878
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Type 1 muscle fiber predominance 0003803
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Facial diplegia 0001349
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Long philtrum 0000343
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Ophthalmoplegia
Eye muscle paralysis
0000602
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
1%-4% of people have these symptoms
Arthrogryposis multiplex congenita 0002804
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Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Intermediate congenital nemaline myopathy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Intermediate congenital nemaline myopathy:
    Congenital Muscle Disease International Registry
     

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.

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