Rare Gastroenterology News

Disease Profile

Diaphragmatic flutter

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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Summary

Diaphragmatic flutter is a disease in which there are repeated involuntary contractions of the diaphragm, the muscle that separates the heart and lungs from the abdomen. The abnormal flutter of the diaphragm affects the way the lungs can expand and contract during breathing.[1] Symptoms of diaphragmatic flutter may include difficulty breathing, abdominal pain, heart palpitations, and chest pain. Symptoms usually worsen during the day and with stress.[2] Diaphragmatic flutter often occurs in combination with contraction of other muscles used to breath (respiratory muscles).[1]

The cause of diaphragmatic flutter is not well understood. It has been associated with many other medical issues, including inflammation of the brain (encephalitis), stroke, and tumors of the spine and chest.[1][2] The diagnosis of diaphragmatic flutter is suspected based on symptoms and may be confirmed by different methods of monitoring the movement of the diaphragm, such as ultrasound.[1][2] Treatment may include use of certain anti-seizure medications and/or antipsychotic medications.[1][2][3] If medication is not successful, procedures to try to control the movement of the diaphragm (diaphragm pacer stimulation) or to stop movement of the diaphragm, such as damaging one of the two main nerves to the diaphragm (phrenic nerve crush), may also be used.[2][3]

References

  1. Llaneza Ramos VFM, Considine E, Karp BI, Lungu C, Alter K, Hallett M. Ultrasound as Diagnostic Tool for Diaphragmatic Myoclonus. Movement disorders clinical practice. 2016; 3(3):282-284. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941981.
  2. Walton D, Bonello M, Steiger M. Diaphragmatic flutter. Pract Neurol. June 2018; 18(3):224-226. https://www.ncbi.nlm.nih.gov/pubmed/29419420.
  3. Chiou M, Herrero MV, Bach JR, Cole JL, Gonzales EL. Treatment of Idiopathic Diaphragm Flutter: A Case Study. Chest. April 2017; 151(4):e69-e71. https://www.ncbi.nlm.nih.gov/pubmed/28390638.