Familial cases. WAS: child with recurring symptoms after Heller Myotomy

[Guest guest]

Barb wrote:

> You mention " there are rarer familial types that are inherited. " Can

> you provide more information or a link to this information?

The most well known is Allgrove syndrome, also known as AAA (Achalasia,

Alacrymia and Adrenal or triple A, but also 4A) syndrome. In AAA

achalasia is just one of the problems it causes. Some of the other

familial cases also have other problems that appear to be parts of

syndromes. This is different from primary idiopathic achalasia where the

achalasia is not considered part of a syndrome. Below are some

abstracts. Many are case studies because often these types of cases are

so rare that more than a few cases could not be studied together.

notan

Medscape

Allgrove (AAA) Syndrome

http://emedicine.medscape.com/article/919360-overview

The " 4A " syndrome: adrenocortical insufficiency associated with

achalasia, alacrima, autonomic and other neurological abnormalities.

http://www.ncbi.nlm.nih.gov/pubmed/7895750

Association of adult achalasia and alacrima.

http://www.ncbi.nlm.nih.gov/pubmed/10235590

Three sibs with achalasia and alacrimia: a separate entity different

from triple-A syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/2817011

Four siblings with achalasia, alacrimia and neurological abnormalities

in a consanguineous family.

http://www.ncbi.nlm.nih.gov/pubmed/8884077

Idiopathic achalasia is not allelic to alacrima achalasia adrenal

insufficiency syndrome at the ALADIN locus.

http://www.ncbi.nlm.nih.gov/pubmed/15843079

Familial adrenocorticotropin unresponsiveness associated with alacrima

and achalasia: biochemical and molecular studies in two siblings with

clinical heterogeneity.

http://www.ncbi.nlm.nih.gov/pubmed/7758515

Familial achalasia with absent tear production.

http://www.ncbi.nlm.nih.gov/pubmed/3351712

Infantile achalasia associated with deficient tear production.

http://www.ncbi.nlm.nih.gov/pubmed/4067228

Achalasia with absent tear production.

http://www.ncbi.nlm.nih.gov/pubmed/7549313

Dysautonomic achalasia in two siblings with Sandhoff disease.

http://www.ncbi.nlm.nih.gov/pubmed/16352312

Familial visceral neuropathy: a defined entity?

http://www.ncbi.nlm.nih.gov/pubmed/16088914

Achalasia cardia in mother and son.

http://www.ncbi.nlm.nih.gov/pubmed/15250570

Familial achalasia of the esophagus in mother and son: a possible

pathogenetic relationship.

http://www.ncbi.nlm.nih.gov/pubmed/489860

Achalasia in siblings in infancy.

http://www.ncbi.nlm.nih.gov/pubmed/11669040

Achalasia in siblings. Clinical and genetic aspects.

http://www.ncbi.nlm.nih.gov/pubmed/7053188

A study of swallowing difficulties in first degree relatives of patients

with achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/4023994

Achalasia due to diffuse esophageal leiomyomatosis and inherited as an

autosomal dominant disorder. Report of a family study.

http://www.ncbi.nlm.nih.gov/pubmed/2323526

[Familial dysphagia]

http://www.ncbi.nlm.nih.gov/pubmed/3751199

Family occurrence of achalasia and diffuse spasm of the oesophagus.

http://www.ncbi.nlm.nih.gov/pubmed/3061886

Achalasia and diffuse oesophageal spasm in siblings.

http://www.ncbi.nlm.nih.gov/pubmed/499920

Familial coexistence of achalasia and non-achalasic oesophageal

dysmotility: evidence for a common pathogenesis.

http://www.ncbi.nlm.nih.gov/pubmed/1446873

Coexistent Hirschsprung's disease and esophageal achalasia in male siblings.

http://www.ncbi.nlm.nih.gov/pubmed/9434037

The combination of Hirschsprung's disease and achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/15750914

An autosomal recessive disorder with posterior column ataxia and

retinitis pigmentosa.

http://www.ncbi.nlm.nih.gov/pubmed/9409377

Familial infantile oesophageal achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/1755653

Familial achalasia in children.

http://www.ncbi.nlm.nih.gov/pubmed/2369177

Familial achalasia, microcephaly, and mental retardation. Case report

and review of literature.

http://www.ncbi.nlm.nih.gov/pubmed/3048841

Achalasia and microcephaly.

http://www.ncbi.nlm.nih.gov/pubmed/7211947

Achalasia microcephaly syndrome in a patient with consanguineous

parents: support for a.m. being a distinct autosomal recessive condition.

http://www.ncbi.nlm.nih.gov/pubmed/2591072

Achalasia in monozygotic twins.

http://www.ncbi.nlm.nih.gov/pubmed/7200858

Congenital achalasia: facts and fantasies.

http://www.ncbi.nlm.nih.gov/pubmed/16197535

Discordance for achalasia in identical twins.

http://www.ncbi.nlm.nih.gov/pubmed/572288

Congenital cholinergic nervous system dysfunction in identical twins.

http://www.ncbi.nlm.nih.gov/pubmed/7198889