Rare Gastroenterology News

Disease Profile

X-linked myopathy with excessive autophagy

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

Childhood

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ICD-10

G71.8

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.

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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)

XMEA; Myopathy, X-linked, with excessive autophagy

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk as they get older, while others require assistance in adulthood. This disorder is caused by mutations in the VMA21 gene and is inherited in an X-linked recessive fashion.[1][2]

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
5%-29% of people have these symptoms
Flexion contracture
Flexed joint that cannot be straightened
0001371
Limited extraocular movements
0007941
Motor delay
0001270
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Difficulty climbing stairs
Difficulty walking up stairs
0003551
Difficulty running
0009046
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
Gowers sign
0003391
Incomplete penetrance
0003829
Myopathy
Muscle tissue disease
0003198
Myotonia
0002486
Proximal muscle weakness in lower limbs
0008994
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Slow progression
Signs and symptoms worsen slowly with time
0003677
X-linked recessive inheritance
0001419

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment

There are currently no specific treatments for individuals with X-linked myopathy with excessive autophagy (XMEA). Management is typically symptomatic and supportive, focusing on the specific signs and symptoms present in each individual.

For managing myopathies in general, physical therapy and exercise are important for maintaining strength. It is also important to practice good general health measures including a well-balanced nutritional diet, maintenance of normal weight, and proper management of any other chronic illnesses.[3]

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.

Where to Start

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked myopathy with excessive autophagy. Click on the link to view a sample search on this topic.

References

  1. Myopathy, X-linked, with excessive autophagy. Online Mendelian Inheritance in Man. 2009; https://www.ncbi.nlm.nih.gov/omim/310440. Accessed 6/15/2011.
  2. VMA21. Genetics Home Reference. October 4, 2011; https://ghr.nlm.nih.gov/gene/VMA21. Accessed 10/10/2011.
  3. Myopathies. American College of Rheumatology. May 2008; https://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/myopathies.asp. Accessed 10/10/2011.

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