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What are the symptoms of Niemann-Pick type C disease?

The symptoms of Niemann-Pick type C disease (NP-C) vary widely from person to person and can present at different stages of the disease, or sometimes not at all.1 This means that they are not always recognized immediately, which can lead to considerable delay in achieving a diagnosis and can be frustrating for patients and their families.2

Symptoms of NP-C fall into two groups – neurological, which affect the brain and central nervous system (see Figure 1), and non-neurological which affect other organs in the body, for example, the liver and spleen.

The non-neurological symptoms affecting the liver and spleen usually appear early, sometimes affecting newborns and young infants (see Table 1). Typically you are most likely to notice the neurological symptoms of NP-C in early-to-mid childhood, causing a child to appear clumsy with frequent falls. They may also have problems keeping up with learning at school and may even be forgetting things previously learned. Neurological symptoms may also include problems with eye movement. Sometimes, neurological symptoms of NP-C do not become apparent until adulthood and often present with psychiatric illness (see Table 1).2,3

Figure 1: Areas of the body which can be neurologically affected by NP-C

 

Table 1: Understanding the technical terms for the symptoms of NP-C and when they might present2,3,4

Age at onset Non-neurological symptoms Neurological symptoms
0-3 months
  • Not usually recognized
3 months-2 years
  • Enlargement of the liver or spleen
2-6 years
  • Enlargement of the liver or spleen
  • Balance disorder, clumsiness and frequent falls (ataxia)
  • Difficulty swallowing (dysphagia)
  • Slurred and irregular speech (dysarthria)
  • Involuntary, sustained muscle contractions that can cause abnormal twisting or posture (dystonia)
  • Decreased muscle tone (hypotonia)
  • Vertical supranuclear gaze palsy
  • Seizures
  • Episodes of sudden muscular weakness potentially leading to collapse during moments of strong emotion, such as laughter or extreme happiness (gelastic cataplexy)
  • Learning difficulties
  • Hearing loss
6-15 years
  • Enlargement of certain organs, commonly the liver or spleen
  • Learning difficulties
  • Behavioral problems
  • Balance disorder, clumsiness and frequent falls (ataxia)
  • Difficulty swallowing (dysphagia)
  • Slurred and irregular speech (dysarthria)
  • Involuntary, sustained muscle contractions that can cause abnormal twisting or posture (dystonia)
  • Decreased muscle tone (hypotonia)
  • Gelastic cataplexy
  • Seizures
  • Vertical supranuclear gaze palsy
15 years and over  
  • Balance disorder, clumsiness and frequent falls (ataxia)
  • Vertical supranuclear gaze palsy
  • Problems with information processing or memory (cognitive dysfunction)
  • Gradual change in normal brain function and its abilities including memory, thinking, language, judgment and behavior (dementia)
  • A change in the way of thinking, feeling and behaving, perhaps being unable to distinguish between reality and imagination (psychosis)
  • Seeing or hearing things that may not be there (hallucinations)
  • Seizures

 

References

  1. Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
  2. Vanier MT. Niemann-Pick disease Type C. Orphanet Journal of Rare Diseases. 2010;5:16.
  3. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
  4. Wraith J, Baumgartner M, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009. 98: 152-165.