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Tay Sachs Disease

Tay Sachs Disease: Introduction

Tay Sachs Disease: Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec ... more about Tay Sachs Disease.

Tay Sachs Disease: A condition which is causes GM2 gangliosidosis. More detailed information about the symptoms, causes, and treatments of Tay Sachs Disease is available below.

Symptoms of Tay Sachs Disease

Home Diagnostic Testing

Home medical testing related to Tay Sachs Disease:

Wrongly Diagnosed with Tay Sachs Disease?

Tay Sachs Disease: Deaths

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Tay Sachs Disease: Complications

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Causes of Tay Sachs Disease

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Disease Topics Related To Tay Sachs Disease

Research the causes of these diseases that are similar to, or related to, Tay Sachs Disease:

Tay Sachs Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Tay Sachs Disease

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or ...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion diagnosis. The...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which the symptoms...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post-concussion syndrome and these were...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple...read more »

Tay Sachs Disease: Research Doctors & Specialists

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Tay Sachs Disease: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Tay Sachs Disease

Medical research articles related to Tay Sachs Disease include:

Click here to find more evidence-based articles on the TRIP Database

Tay Sachs Disease: Animations

Prognosis for Tay Sachs Disease

Prognosis for Tay Sachs Disease: The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis. (Source: Genes and Disease by the National Center for Biotechnology) ... Even with the best of care, children with Tay-Sachs disease usually die by age 5. (Source: excerpt from NINDS Tay-Sachs Disease Information Page: NINDS)

Research about Tay Sachs Disease

Visit our research pages for current research about Tay Sachs Disease treatments.

Clinical Trials for Tay Sachs Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Tay Sachs Disease include:

Statistics for Tay Sachs Disease

Tay Sachs Disease: Broader Related Topics

User Interactive Forums

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Article Excerpts about Tay Sachs Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec, the Cajuns of Southwest Louisiana, and other populations throughout the world. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Tay-Sachs Disease Information Page: NINDS (Excerpt)

Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. (Source: excerpt from NINDS Tay-Sachs Disease Information Page: NINDS)

Definitions of Tay Sachs Disease:

An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96) - (Source - Diseases Database)

Tay Sachs Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tay Sachs Disease, or a subtype of Tay Sachs Disease, 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 Tay Sachs Disease as a "rare disease".
Source - Orphanet

 

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