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.

What is Gaucher's Disease? Gaucher's Disease (GD) is a rare autosomal recessive inherited lysosomal storage disorder. Its core etiology lies in mutations in the glucocerebrosidase (GBA) gene, leading to a significant reduction or complete absence of this enzyme's activity. This enzymatic defect prevents the normal hydrolysis of its substrate, glucosylceramide (GlcCer), causing massive accumulation within lysosomes of the mononuclear phagocyte system and the formation of characteristic "Gaucher cells." These abnormal cells accumulate in organs such as the liver, spleen, and bone marrow, triggering a range of severe clinical symptoms.

What is Spinal Muscular Atrophy (SMA)? August 7th is observed annually as International Spinal Muscular Atrophy (SMA) Awareness Day. Spinal Muscular Atrophy (SMA) is an autosomal recessive inherited neuromuscular disorder primarily caused by inactivating mutations in the Survival Motor Neuron 1 (SMN1) gene. This leads to degeneration of motor neurons in the anterior horn of the spinal cord, resulting in progressive proximal muscle weakness and atrophy in the limbs. The disease not only affects motor function but may also involve multiple systems, including respiratory, digestive, and skeletal systems. The incidence of SMA is approximately 1 in 6,000 to 1 in 10,000 live births, making it one of the leading genetic causes of infant mortality. Based on age of onset and clinical manifestations, SMA is classified into types I through IV, with type I being the most severe and typically leading to death before the age of two.