Intermediate congenital nemaline myopathy

Title

Other Names:

Intermediate congenital NM; Intermediate nemaline myopathy

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Nemaline myopathy

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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

Symptoms 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.

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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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2020

Do you have updated information on this disease? We want to hear from you.

Research Research

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

Learn More 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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
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May 21, 2020

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