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Diseases » Barth Syndrome » Summary
 

What is Barth Syndrome?

What is Barth Syndrome?

  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.

Barth Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Barth Syndrome, or a subtype of Barth Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Barth Syndrome as a "rare disease".
Source - Orphanet

Barth Syndrome: Introduction

Types of Barth Syndrome:

Broader types of Barth Syndrome:

How many people get Barth Syndrome?

Prevalance of Barth Syndrome: 1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website
Prevalance Rate of Barth Syndrome: approx 1 in 400,000 or 0.00% or 680 people in USA [about data]

Who gets Barth Syndrome?

Gender Ratio for Barth Syndrome: males only

How serious is Barth Syndrome?

Complications of Barth Syndrome: see complications of Barth Syndrome

What causes Barth Syndrome?

Causes of Barth Syndrome: see causes of Barth Syndrome

What are the symptoms of Barth Syndrome?

Symptoms of Barth Syndrome: see symptoms of Barth Syndrome

Complications of Barth Syndrome: see complications of Barth Syndrome

Barth Syndrome: Testing

Diagnostic testing: see tests for Barth Syndrome.

Misdiagnosis: see misdiagnosis and Barth Syndrome.

How is it treated?

Treatments for Barth Syndrome: see treatments for Barth Syndrome
Research for Barth Syndrome: see research for Barth Syndrome

Name and Aliases of Barth Syndrome

Main name of condition: Barth Syndrome

Other names or spellings for Barth Syndrome:

3-methylglutaconic aciduria, type 2, cardioskeletal myopathy X-linked, myopathy cardioskeletal X-linked, Cardioskeletal myopathy-neutropenia, BTHS, Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria, MGA type 2, AGM2

3-Methylglutaconic aciduria type 2, Cardiomyopathy-Neutropenia syndrome Source - Diseases Database

3-methylglutaconicaciduria type II, BTHS, Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria, MGA type 2
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Barth Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Barth Syndrome:

 

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