Yellowing of the skin and whites of the eyes (jaundice) may occur during the newborn period. Significant accumulation of fluid in the abdomen (ascites) can also occur.
The initial symptom in most infantile cases is abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), which can progressively worsen until the liver and spleen become massive. The severe, infantile form of ASMD, known as Niemann-Pick disease type A, can be distinguished from more mild forms, which have later onset. Parents should talk to their child’s physician and medical team about the specific symptoms and overall prognosis.
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Some children will develop severe, life-threatening complications early in life others have mild disease that may go undiagnosed well into adulthood. Signs & Symptomsīecause ASMD is a highly variable disorder, it is important to note that affected individuals will not have all of the symptoms described below and that every individual case is unique. Some researchers use acid sphingomyelinase disease type B to refer to all mild and intermediate forms, which can include those that have neurological findings. However, since cases fall in between these two extremes, such broad designations can be misleading. Type A generally causes severe neurodegenerative disease during infancy, while type B is generally not considered to be a neurologic disease. Neuronopathic refers to disorders that damage brain cells (neurons). ASMD is also known as acid sphingomyelinase-deficient Niemann-Pick disease.ĪSMD has traditionally been broken down into two subgroups – neuronopathic (type A) and non-neuronopathic (type B). NORD has an individual report on NPD type C in the Rare Disease Database. NPD type C is now considered a separate disorder, distinct from Niemann-Pick disease types A and B. NPD type C is due to mutations in one of two different genes and does not involve a deficient enzyme. NPD types A and B are due to mutations in the SMPD1 gene, which causes a deficiency of a specific enzyme, acid sphingomyelinase (ASM). These disorders were initially grouped together because similar symptoms, but we now know that they are different diseases. There are three disorders known as Niemann-Pick disease, types A, B, and C.
ASMD is caused by mutations in the SMPD1 gene and is inherited in an autosomal recessive manner. Intermediate forms of the disorder exist as well. At the mild end of the spectrum, affected individuals have no or only minimal neurological symptoms and survival into adulthood is common (Niemann-Pick disease type B). At the severe end of the spectrum is a fatal neurodegenerative disorder that presents in infancy (Niemann-Pick disease type A). The disorder may be best thought of as a spectrum of disease. ASMD is highly variable and the age of onset, specific symptoms and severity of the disorder can vary dramatically from one person to another, sometimes even among members of the same family. Consequently, sphingomyelin and other substances accumulate in various tissues of the body. Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin.
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