Rare Oncology News

Disease Profile

Adult-onset 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

Adult

ageofonset-adult.svg

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

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: 171442

Definition
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.

Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases.

Clinical description
Adult onset NM occurs sporadically between 20 and 50 years of age. It presents with a generalized weakness, myalgia and rapid progression. Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement. Muscle biopsy can reveal inflammatory changes. Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.

Genetic counseling
Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.

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
80%-99% of people have these symptoms
EMG: myopathic abnormalities
0003458
Nemaline bodies
0003798
30%-79% of people have these symptoms
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Increased muscle lipid content
Fat accumulation in muscle fibers
Fat deposits in muscle fibers
Lipid accumulation in skeletal muscle
Skeletal muscle lipid accumulation

[ more ]

0009058
Increased variability in muscle fiber diameter
0003557
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Neck flexor weakness
Neck flexion weakness
0003722
Paraproteinemia
0031047
Type 1 muscle fiber predominance
0003803
Upper limb muscle weakness
Decreased arm strength
Weak arm

[ more ]

0003484
5%-29% of people have these symptoms
Bulbar signs
0002483
Difficulty walking
Difficulty in walking
0002355
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Flexion contracture
Flexed joint that cannot be straightened
0001371
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Lower limb muscle weakness
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs

[ more ]

0007340
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Muscle fibrillation
0010546
Muscle stiffness
0003552
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Neuromuscular dysphagia
0002068
Reduced vital capacity
0002792
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
1%-4% of people have these symptoms
Mildly elevated creatine kinase
0008180

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.