Paula and Bobby
Parents of Lillie
Achalasia, Familial Esophageal
What is Achalasia, Familial Esophageal?
Achalasia, Familial Esophageal is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Familial achalasia is rare, but when it does occur the onset is usually in childhood, and it occurs in sibs born to normal parents. The age of onset in the sib-pair reported by Bosher and Shaw (1981) was 3 months, with 'spitting up' of feeds. A barium swallow showed a distal oesophageal obstruction and achalasia was subsequently confirmed. On histology there were adequate ganglion cells. Kaar et al., (1991) reported two affected brothers who both presented in the first year of life. The parents were first cousins.
* This information is courtesy of the L M D.
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What gene changes cause Achalasia, Familial Esophageal?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 200400 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Achalasia, Familial Esophageal?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Xerostomia, Achalasia, Keratoconjunctivitis sicca, Rheumatoid arthritis
How does someone get tested for Achalasia, Familial Esophageal?
The initial testing for Achalasia, Familial Esophageal can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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