Niemann-Pick disease, type C2

Niemann-Pick disease type C2 is a rare metabolic condition that affects many parts of the body. It is most often seen in childhood, although signs and symptoms can develop at any age. This condition involves problems with movement, eye control, muscle tone, and the function of organs such as the liver and spleen, among other systems. People with this condition may experience a range of challenges including difficulties with coordinating movements and eye control. They might also have issues such as seizures, speech problems, and trouble swallowing. The wide variety of symptoms reflects the complexity of this condition and its effects on the body.

Common symptoms include ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (trouble moving the eyes vertically), poor muscle tone, enlarged liver and spleen (hepatosplenomegaly), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing.

Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene. It is inherited in an autosomal recessive manner, which means a person needs to inherit two copies of the mutated gene (one from each parent) to be affected by the condition.

There is no cure for Niemann-Pick disease type C2. Treatment focuses on managing the specific signs and symptoms in each person. This can include supportive care to help improve quality of life and reduce discomfort associated with the symptoms.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.