Niemann–Pick C2 disease

Niemann–Pick C2 disease (NPC2) is a rare, inherited metabolic disorder that primarily affects the nervous system. It is one of the types of Niemann–Pick disease, named after the German pediatrician Albert Niemann and the American pathologist Ludwick Pick who first described it.

Etiology

NPC2 is caused by mutations in the NPC2 gene. This gene provides instructions for producing a protein that is involved in the movement of cholesterol and other types of lipids within cells. Mutations in the NPC2 gene disrupt the normal function of this protein, leading to an accumulation of cholesterol and other lipids within cells. This accumulation causes cell damage and death, particularly in the brain, leading to the neurological problems characteristic of NPC2.

Symptoms

The symptoms of NPC2 typically begin in early childhood, although they can appear later in life. They include ataxia (difficulty coordinating movements), dysarthria (difficulty speaking), dysphagia (difficulty swallowing), and dementia. As the disease progresses, affected individuals may develop seizures, cataplexy (sudden loss of muscle tone), and dystonia (involuntary muscle contractions).

Diagnosis

Diagnosis of NPC2 is based on the presence of characteristic clinical symptoms, biochemical testing to measure the accumulation of cholesterol and other lipids in cells, and genetic testing to identify mutations in the NPC2 gene.

Treatment

There is currently no cure for NPC2. Treatment is supportive and aimed at managing symptoms. This may include medications to control seizures and dystonia, physical therapy to manage ataxia and dysarthria, and nutritional support to manage dysphagia.

Prognosis

The prognosis for individuals with NPC2 is generally poor, with most affected individuals not surviving past childhood or early adulthood. However, the severity of the disease and the age at onset can vary widely, and some individuals with milder forms of the disease may live into adulthood.

See also

• Niemann–Pick disease
• Metabolic disorder
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Niemann–Pick C2 disease

Niemann–Pick C2 disease is a rare disease.