Niemann-Pick Disease (NPC)

Niemann-Pick Disease (NPC) is a group of inherited metabolic disorders. NPC is caused by mutations in the NPC1 genes, which play key roles in lipid metabolism. In severe cases, NPC can lead to progressive neurodegeneration and premature death.

While there is currently no cure for NPC, treatment focuses on managing symptoms and improving quality of life for affected individuals.

This figure shows the location of Niemann-Pick Disease within the brain. Different colors represent various brain regions according to their labels, while the points indicate areas with a potential presence of Niemann-Pick Disease.

Individuals with NPC can have onset of symptoms at different ages that have been grouped historically as: perinatal (shortly before and after birth), early infantile (3 months to < 2 years), late infantile (2 to < 6 years), juvenile (6 to < 15 years), and adult (15 years and greater).

Symptom

Common symptoms of Niemann-Pick Disease (NPC) may include:

• Hypotonia: Reduced muscle tone, leading to floppiness or weakness.
• Gelastic Cataplexy: Sudden loss of muscle tone triggered by strong emotions, often accompanied by laughter.
• Ataxia: Lack of muscle coordination, affecting balance and movement.
• Dysarthria: Difficulty in speaking due to impaired control of the muscles used in speech.
• Dysphagia: Difficulty swallowing, which can lead to choking or aspiration pneumonia.
• Vertical Supranuclear Gaze Palsy (VSGP): Difficulty moving the eyes vertically, affecting vision and eye coordination.
• Seizures: Episodes of abnormal electrical activity in the brain, leading to involuntary movements or loss of consciousness.
• Cognitive Impairment: Decline in cognitive function, including memory, attention, and problem-solving skills.
• Psychiatric Symptoms: Such as depression, anxiety, or behavioral changes, which may become prevalent in older individuals with NPC.

These symptoms can manifest at different stages of life and may vary in severity among individuals with NPC.