Degenerative diseases could cause profound emotional and psychological impact on patients and their families.Contrary to general perception that degenerative diseases affect only the elderly, these diseases (e.g. Parkinson’s disease and Frontotemporal Dementia) may affect people as young as 20 years old.
Advancement in research has made genetic testing for the hereditary risks of degenerative diseases possible. Our genetic test panel for degenerative diseases includes the analysis of genes associated with these 4 important diseases:
Age-related Macular Degeneration (AMD)
Frontotemporal Dementia (FD)
Knowing the inherent risks for these dilapidating diseases early may allow individuals to benefit from preventive measures (e.g. lifestyle changes) that have been constantly corroborated and refreshed by rigorous research.
Aggregates of proteins (amyloid plaques and tau tangles) may accumulate in the brain and disrupt neuronal functions over time. Slowly, neurons loose functions and die, driving the onset and progression of Alzheimer’s Disease (AD) which normally starts around the age of 65 years.
Approximately 25% of all AD is familial (i.e., ≥2 persons in a family have AD). Genetic mutations associated to AD have been well studied. A genetic test for these AD related genes will assess the risk of developing AD. This may help in formulating a personalized health management plan to prolong health and improve life.
The primary cause of Parkinson’s Disease (PD) is due to the degeneration of Dopamine-releasing neurons in the brain. Dopamine is a neurotransmitter essential for neuronal signalling to muscles.
As PD progresses, brain signalling to muscles declines, eventually leading to the loss of control of muscle movement, that presents itself through symptoms like tremor, slowness and stiffness.Although PD may be viewed as an elderly disorder, 10-20% of PD has an early onset (≤ 50 years old and as young as about 20 years old).
Notably, 15 percent of people with PD have a family history for this disorder.Genes related to familial cases of PD have been well studied, and a genetic test for such genes may be useful to assess the risk of developing PD. This may help in formulating a personalized health management plan to prolong health and improve life.
Age-related Macular Degeneration
The macular is a small spot at the back of the eye that is essential in providing a sharp and central vision. Age-related Macular degeneration (AMD) is common among people age 50 and older, and is a leading cause of vision loss in the elderly.
The presence of a family history has been linked to an increased risk (approximately 3 fold) of developing AMD. Genes related to AMD have been well studied and a genetic test for these genes may be useful to assess the risk of developing AMD.
There is currently no cure for AMD, but measures such as a healthier lifestyle and nutritional supplements have been suggested to help reduce the risk of AMD.
Frontotemporal Dementia (FD) primarily arises due to the degeneration of the frontal and temporal lobes of the brain. As FD progresses, symptoms characteristic of dementia (e.g. behaviour and personality changes, declination in thinking and reasoning, declination in language, etc.) become prominent.
Similar to Parkinson’s disease, FD may have an early onset as early as around 20 years old. Approximately 10% of FD cases could be traced to a mutation in a single FD-related gene.
A genetic test for FD-related genes may be useful for early risk detection and potential formulation of a personalized health management plan to prolong health and improve life.