• Idiopathic Achalasia

Disease at a Glance

Summary
Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia.
Estimated Number of People with this Disease
In the U.S. there may be between

3,000 to 30,000

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
Categories
Gastrointestinal Disease
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
This information comes from Orphanet

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Respiratory System

9 Symptoms

Tile View
List View
Tile View
List View

Respiratory System

The respiratory system is made up of the lungs and the nose, mouth, throat, voice box, windpipe, diaphragm, and muscles of the chest wall. This system controls breathing, providing the body with oxygen and getting rid of carbon dioxide. Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist.
Medical Term

Bronchitis

Frequency: Frequent
Description

Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.

Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.

9 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

This section is currently in development. 

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Autosomal recessive inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.
Read More
Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Next: Diagnosis & Treatment

    Last Updated: Nov. 8, 2021