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

Symptoms of Niemann-Pick type C disease (NP-C) are varied and may appear in infants as young as a few months old, or in late adulthood. Typically, NP-C presents in mid-to-late childhood, and common symptoms include:^1,2

		The inability to rapidly move the eyes up and down voluntarily (vertical supranuclear gaze palsy) - this is an important feature of NP-C
		Sudden muscle weakness often leading to collapse during moments of strong emotion, usually laughter (gelastic cataplexy)
		Difficulty swallowing (dysphagia)
		Slurred, irregular speech (dysarthria)
		Involuntary, sustained muscle contractions (dystonia)
		Lack of muscle control (ataxia)
		Seizures
		Progressive intellectual decline (cognitive dysfunction) leading to dementia
		Enlargement of the liver and/or spleen (hepatomegaly and/or splenomegaly)

Children with NP-C may appear clumsy and suffer frequent falls. The progressive physical and intellectual disability, and difficultly communicating, means that these children perform poorly at school and may be labeled as badly-behaved.¹ The build up of fatty molecules (lipids), particularly in the brain, causes the neurological symptoms of NP-C. Symptoms in the very young are hard to detect.¹ Most infants have severe liver damage and some experience breathing difficulties. Adults tend to present with intellectual decline and eye movement problems.¹

References

Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
Patterson MC. Niemann-Pick disease Type C. Gene Reviews 2007a (updated 9 July). Accessible at: www.geneclinics.org. Accessed October 2008.