Hexosaminidase A deficiency (HEX A deficiency) results in a group of neurodegenerative disorders caused by the dysfunctional activity of the specific glycosphingolipid GM2 ganglioside. The disease occurs when cell membrane components known as gangliosides, accumulate to toxic levels, particularly in neurons in the brain and spinal cord, leading to the destruction of neurons and interference with biological functions.
The predominant HEX A deficiency is Tay-Sachs disease (TSD) with its common acute infantile variant, which begins around six months of age and usually results in death by the age of four. Alternative variants of the pathology are the juvenile and the adult-onset TSD types.
This report provides the current prevalent population for Tay Sachs disease across 9 Major Markets (USA, France, Germany, Italy, Spain, UK, Brazil, Japan and India) split by gender and 5-year age cohort. Along with the current prevalence, the report also contains a disease overview of the risk factors, disease diagnosis and prognosis along with specific variations by geography and ethnicity.
Providing a value-added level of insight from the analysis team, several of the main symptoms and co-morbidities of Tay-Sachs have been quantified and presented alongside the overall prevalence figures. These sub-populations within the main disease are also included at a country level across the 10-year forecast snapshot.
Main symptoms and co-morbidities for Tay-Sachs disease include:
- Visual problems
- Low muscle tone
- Neuromuscular abnormalities
- Speech disturbances
- Cerebellar dysfunctions/Impaired cognitive status
Reason to buy
- Able to quantify patient populations in global Tay-Sachs disease's market to target the development of future products, pricing strategies and launch plans. - Gain further insight into the prevalence of the subdivided types of Tay-Sachs disease and identify patient segments with high potential. - Delivery of more accurate information for clinical trials in study sizing and realistic patient recruitment for various countries. - Provide a level of understanding on the impact from specific co-morbid conditions on Tay-Sachs disease prevalent population. - Identify sub-populations within Tay-Sachs disease which require treatment. - Gain an understanding of the specific markets that have the largest number of Tay-Sachs disease patients.
Key Topics Covered:
2. Cause of the Disease
3. Risk Factors & Prevention
4. Diagnosis of the Disease
5. Variation by Geography/Ethnicity
6. Disease Prognosis & Clinical Course
7. Key Co-morbid Conditions/Features Associated with the Disease
8. Methodology for Quantification of Patient Numbers
9. Top-Line Prevalence for TSD - Genetic Features of TSD Patients - TSD Phenotype Classification - Co-morbidities within Infantile TSD - Co-morbidities within Late-Onset TSD