Niemann Pick disease (NPD "- Niemann Pick Disease) is actually a term that identifies a group of diseases that affect metabolism and are caused by specific genetic mutations. The three most commonly recognized forms of the disease are types A, B and C. In the past, other forms have been recognized.

Niemann Pick Type "A" and "B"

The type "A" and "B" are both caused by the same lack enzymatic activity and there is a growing consensus that the two forms represent opposite ends of a continuum. People with type "A" generally have little or no production of asthma (less than 1% of normal), while those with type "B" have about 10% of normal level of ASM.

While both type "A" that the "B" have an ASM which is significantly lower than normal, the clinical prognosis for these two groups of patients is very different. The type "A" of the NPD is a severe neurological disease that leads to death between 2 and 4 years of age. By contrast, patients with type "B" generally have little or no neurological involvement and may survive into late childhood or adulthood.



Since there is no accurate correlation between ASM activities and neurological involvement is not possible to accurately predict the severity of the disease by examining the enzymes. There are about 1,200 cases worldwide, of which the majority is of type "B" or an intermediate form.

Niemann Pick type "C"

There are considerable variations in either the first symptoms of Pick’s disease type "C", both in the progression of the disease. Symptoms may appear either early as a few months both in adulthood. Vertical gaze paralysis (inability to move the eyes up and down), enlarged liver, enlarged spleen, or jaundice in children are strong indications that the NPC should be taken into account. It is common that only one or two symptoms of Pick’s disease appear early in the disease.

It is believed that the number of people affected is higher, but it is often difficult to be diagnosed correctly. The NPD type "C" was initially diagnosed as a disability 'learning, a slight delay, "a confusion" and delay the development of motor skills. Is not uncommon for a family to spend several years seeking a diagnosis, before the type "C" is identified. The type "C" is always fatal. The majority of children die before the age of 20 years (and many before the age of 10). The delayed onset of symptoms can lead to longer durations, but is extremely rare that anyone reaches the age of 40.

Other forms

In the past, other types of NPD have been identified. The older forms include:

The NPD Type "D" has been described in the French Canadian population of the county of Yarmouth, Nova Scotia. The genealogical evidence indicates that Joseph Muise (c. 1679 to 1729) and Marie Amirault (1684 - c. 1735) are common ancestors to all cases of Nova Scotia. This is now recognized as a variation of the type "C".

The NPD Type "E" has been described for cases initiated in adults. E 'considered a variation of the type "C" in which metabolic processes are only partially compromised by the delay in symptoms and slow progression.