Niemann-Pick Disease

• Niemann-Pick disease has 5 different types, labeled A,B,C,D, and E. Type A symptoms usually begin in the first few months of life. The symptoms include abdominal swelling within 3-6 months, cherry red spot in the eye, feeding difficulties, and loss of early motor skills.
• Type B symptoms are usually milder and occur in late childhood or adolescence. Abdominal swelling may be seen in early childhood, but there is almost no neurological involvement, such as loss of motor skills. Some patients may have repeated respiratory infections.
• Type C usually affects school-aged children. Symptoms include difficulty in postering of limbs, enlarged spleen, enlarged liver, jaundice at or shortly after birth, learning difficulties and processive intellectual decline, seizures, slurred, irregular speech, and etc. Type D has similar symptoms.
• Type E occurs in adults. Symptoms include swelling of the spleen and neurological problems. Little is known about this rare type of Niemann-Pick disease.

People can inherit the disease when there is a change in a gene (called a mutation) the instructions it contains are no longer correct and the gene cannot carry out its function. People with Niemann-Pick disease have two copies of a mutation, one copy inherited from each parent. Neither gene in the pair is working correctly, which causes the symptoms of the disease. NPD is recessive.
The disease can be evident in a child at birth or 3-6 months after birth. Niemann-Pick Disease can not be detected before birth if  the parent knows they carry the gene. Parents can be tested for NPD by test like slit-lamp eye exam or blood or bone marrow aspiration.

Links 

http://www.nnpdf.org/
http://www.parseghian.org/
http://www.familyvillage.wisc.edu/lib_np.htm
http://hideandseek.org/index.php?option=com_content&task=view&id=118&Itemid=75

Video Link
http://www.youtube.com/watch?v=G_nhA4EJ-sU&feature=related