Typical congenital nemaline myopathy

Title

Other Names:

Typical 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: 171436

Disease 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.

Last updated: 10/10/2011

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
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 phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase 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	Abnormal curving of the spine	0002650
Short neck	Decreased length of neck	0000470
Spinal rigidity		0003306
Waddling gait	'Waddling' gait Waddling walk [ more ]	0002515
1%-4% of people have these symptoms
Kyphosis	Hunched back Round back [ more ]	0002808

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Last updated: 12/1/2018

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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

The Congenital Muscle Disease International Registry supports research for Typical congenital nemaline myopathy by collecting information about patients with this diagnosis. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

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.

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