Rare Medical News

Disease Profile

Jackhammer esophagus

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.

Unknown

Age of onset

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ICD-10

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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)

Hypercontractile esophagus

Summary

Jackhammer esophagus is a motility disorder of the esophagus, the tube that connects the mouth with the stomach, classified under esophageal spasms. Esophageal spasms are divided in 2 main types, diffuse esophageal spasm and hypertensive peristalsis or nutcracker esophagus. Jackhammer esophagus is the most serious manifestation of the hypertensive type and it is also known as hypercontractile peristalsis.[1] Contractions (spasms) are very intensive (very high amplitude), involve most of the esophagus, and last for a long time. There is a jackhammer-type appearance on the high-resolution manometry, an exam which measures the muscle contractions that occur in the esophagus when swallowing.[1][2][3] Symptoms may include feeding difficulty (dysphagia) and chest pain that might be confused with a heart attack.[2]The cause is unknown but it may occur with, or as a consequence of, other conditions, especially gastroesophageal reflux disease (GERD). Treatment depends on the frequency and severity of the esophageal spasms. It may include medication, Botox injections, and surgical procedures. Very hot or cold liquids, loud noises, and stress may worsen dysphagia. Jackhammer esophagus can progress to achalasia, a rare and serious condition that makes it very difficult for food and liquid to pass into the stomach.[1][4] 

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    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

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.

      References

      1. Malas A. Esophageal Spasm. Medscape Reference. October 24, 2017; https://emedicine.medscape.com/article/174975-overview.
      2. Esophageal manometry. MedlinePlus. 2017; https://medlineplus.gov/ency/article/003884.htm.
      3. Esophageal spasms. Mayo Clinic. 2015; https://www.mayoclinic.org/diseases-conditions/esophageal-spasms/diagnosis-treatment/drc-20372255.
      4. Roman S & Kahrilas PJ. Management of Spastic Disorders of the Esophagus. Gastroenterology clinics of North America. 2013; 42(1):27-43. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618975/.