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

Congenital myasthenic syndrome associated with acetylcholine receptor deficiency


Other Names:
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Categories:
This disease is grouped under:

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

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. 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 Congenital myasthenic syndrome associated with acetylcholine receptor deficiency:
    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.

Where to Start

  • The MayoClinic Web site provides further information on congenital myasthenic syndromes. Click on MayoClinic to view the information page.
  • The Muscular Dystrophy Association provides further information on congenital myasthenic syndromes. Click on Muscular Dystrophy Association to view this information page.
  • Genetics Home Reference (GHR) contains information on Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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