What is Neimann Pick Type C disease?
NPC is a progressive neurovisceral genetic disorder that occurs in 1 in 150,000 births. 80% of affected patients are children, but 20% are adults at the time of diagnosis. NPC predominantly results in neurological difficulties, often initially presenting as problems with co-ordination and eye movements, and over time affecting walking, swallowing and memory. Children often develop seizures and significant learning problems with illness progression. A significant proportion of adult patients develop a mental illness, and this is often the first sign of the disease.
There is currently no treatment in Australia for NPC, and most patients are treated symptomatically for their difficulties with movement and swallowing, and for associated problems (such as psychiatric illness or seizures). Some promising medications are in use overseas for sufferers of NPC, and ultimately research is aimed at preventing illness onset and progression so that people affected with NPC can lead healthy and normal lives, as at present there is no cure for NPC Disease.
Dr. Mark Walterfang
Consultant Neuropsychiatrist
Neuropsychiatry Unit
Royal Melbourne Hospital
Dr. Marc Patterson a paediatric neurologist at Mayo Clinic discusses Niemann-Pick disease type C.
This is an excellent source of information that is explained in plain English which is clear and one of the easier examples to understand when investigating NPC Disease. Marc Patterson is actually an Australian Doctor working at the Mayo Clinic in the US
ReplyDeleteIt was very interesting to listen to Dr Marc Patterson explaining about the disease and also the new drugs that they are using to slow the progessive nature of NPC and hopefully in the years to come a cure.
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