Achondroplasia (ACH) is a common genetic skeletal dysplasia. Its core clinical manifestations include disproportionate short stature, macrocephaly with frontal bossing, midface hypoplasia, and bowed tibia. The incidence ranges from 1 in 15,000 to 1 in 25,000 live births. Pathogenesis The…

Albinism is a rare hereditary disorder. It is primarily caused by the deficiency or dysfunction of tyrosinase, which disrupts melanin synthesis and leads to pigment loss in the skin, hair and eyes. Without the protection of melanin, patients are vulnerable…

Cystic fibrosis is an autosomal recessive rare hereditary disorder triggered by pathogenic mutations in the CFTR gene located on the long arm of human chromosome 7. Gene defects impair chloride transport across epithelial cells and trigger excessive sodium & water…

August 7 marks International Spinal Muscular Atrophy (SMA) Awareness Day. Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder primarily caused by loss-of-function mutations in the survival motor neuron 1 (SMN1) gene. This leads to degeneration of anterior horn…

Gaucher’s disease (GD) is a rare autosomal recessive lysosomal storage disorder. The core cause is mutations in the glucocerebrosidase (GBA) gene, which drastically reduce or completely abolish enzyme activity. As a result, the substrate glucosylceramide (GlcCer) cannot be properly hydrolyzed…

Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig’s disease, is a fatal neurodegenerative disorder characterized by motor neuron degeneration. Its clinical manifestations include progressive muscle atrophy, fasciculations, bulbar palsy, and pyramidal tract damage, ultimately leading to respiratory failure and…

Huntington’s Disease (HD) is a rare neurodegenerative disorder characterized by progressive chorea, psychiatric disturbances, and cognitive decline. It is inherited in an autosomal dominant manner, with pathological features including neuronal degeneration in the caudate nucleus, other deep brain nuclei, and…

Progeria refers to a group of genetic disorders characterized by accelerated aging across multiple body systems. Based on different causative genes, progeroid syndromes are classified into various types: HGPS is the most intensively studied and representative progeroid syndrome, serving as…

Transthyretin amyloidosis (ATTR) is a rare systemic disorder caused by amyloid deposition of misfolded transthyretin (TTR) protein. TTR is a 55 kDa protein consisting of 127 amino acids, mainly present in plasma and cerebrospinal fluid (CSF). It transports thyroxine (T4)…

Duchenne muscular dystrophy (DMD) is a rare X-linked recessive genetic disorder caused by mutations in the DMD gene, leading to the loss of dystrophin protein. Dystrophin is critical for maintaining the stability of muscle cell membranes. The incidence of DMD…