What is Non-Syndromic Deafness? Deafness is the most common birth defect, with a global incidence of hearing loss in newborns of 1.86‰. Currently, it is widely accepted that over 60% of deafness cases are caused by genetic factors. Hereditary deafness can be classified into two types: syndromic hearing loss (SHL) and non-syndromic hearing loss (NSHL), which is the most common form of hereditary deafness, accounting for approximately 70% of all cases.

What is Duchenne Muscular Dystrophy? Duchenne Muscular Dystrophy (DMD) is a rare X-linked recessive genetic disorder primarily caused by mutations in the DMD gene, leading to the absence of dystrophin protein. This protein is crucial for maintaining the stability of muscle cell membranes.

What is Transthyretin Amyloidosis? Transthyretin Amyloidosis (ATTR) is a rare systemic disorder caused by the amyloid deposition of misfolded transthyretin (TTR) protein.

What is Huntington's Disease? Huntington's Disease (HD) is a rare neurodegenerative disorder primarily characterized by progressively worsening choreiform movements, psychiatric disturbances, and cognitive decline. The disease is inherited in an autosomal dominant pattern. Its pathological hallmark is neuronal degeneration in the caudate nucleus, other deep brain nuclei, and the cerebral cortex, leading to striatal atrophy. The incidence of HD varies significantly by region, being higher in Europe (5.65 per 100,000) and North America (7.43 per 100,000) compared to Asia (0.99 per 100,000). The typical age of onset is between 35 and 50 years, with an average survival period of approximately 10 to 20 years after diagnosis.

What is Amyotrophic Lateral Sclerosis? Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig's disease, is a fatal neurodegenerative disorder characterized by the degeneration of motor neurons. The primary clinical manifestations include progressive muscle atrophy, fasciculations, bulbar palsy, and corticospinal tract signs, ultimately leading to death from respiratory failure. ALS is classified into sporadic ALS (SALS, accounting for 90%-95%) and familial ALS (FALS, accounting for 5%-10%), with the latter predominantly following an autosomal dominant inheritance pattern. The global prevalence of ALS is approximately 5 per 100,000 individuals, with a lifetime risk of 1 in 400 to 1 in 800. The peak age of onset is between 55 and 75 years, with a median survival of about 27.5 months. In China, the average age of onset is approximately 53.7 years, relatively earlier than in some other populations.