| Niemann-Pick disease Types C and D may
| |
| | Pick Disease
|
| appear early in life or develop in the
| |
| | Deficiency of acid sphingomyelinase.
|
| teen or adult years. Niemann-Pick.
| |
| | Lysosomal accumulation of sphingomyelin.
|
| Incidence of Niemann-Pick disease, type C
| |
| | Cellular cholesterol.
|
| is estimated to be 1 in 150,000 people.
| |
| | Signs and Symptoms of Niemann Pick
|
| Type C occurs when the body can not
| |
| | Disease
|
| properly break down cholesterol and other
| |
| | Common Sign and Symptoms of Niemann Pick
|
| lipids (fats). This leads to too much
| |
| | Disease
|
| cholesterol in the liver and spleen and
| |
| | Lack of muscle coordination.
|
| excessive amounts of other lipids in the
| |
| | Brain degeneration.
|
| brain. There may be reduced ASM activity
| |
| | Learning problems.
|
| in some cells. Type C Niemann-Pick
| |
| | Loss of muscle tone.
|
| disease has been reported in all ethnic
| |
| | Increased sensitivity to touch.
|
| groups but it is most common among Puerto
| |
| | Spasticity.
|
| Ricans of Spanish descent. Other signs
| |
| | Feeding and swallowing difficulties.
|
| include severe liver disease, breathing
| |
| | Slurred speech.
|
| difficulties, developmental delay,
| |
| | Enlarged liver and spleen.
|
| seizures, increased muscle tone (
| |
| | Treatment of Niemann Pick Disease
|
| dystonia ), lack of coordination,
| |
| | Common Treatment of Niemann Pick Disease
|
| problems with feeding, and an inability
| |
| | Bone marrow transplantation has been
|
| to move the eyes vertically. People with
| |
| | performed on a few patients with Type B
|
| this disorder can survive into adulthood.
| |
| | with encouraging results.
|
| Patients with NPD type A have progressive
| |
| | Others possible treatments including is
|
| neurodegeneration, and attainment of
| |
| | enzyme replacement therapy and gene
|
| milestones does not progress beyond 10
| |
| | therapy.
|
| months in any domain. Motor milestone
| |
| | A healthy, low-cholesterol diet is
|
| attainment rarely progresses beyond the
| |
| | recommended.
|
| ability to sit with assistance.
| |
| | Medicines are available to control or
|
| Progression with loss of previously
| |
| | relieve many symptoms, such as cataplexy
|
| achieved milestones ensues, and patients
| |
| | and seizures.
|
| appear weak and hypotonic. Bone marrow
| |
| | Orthotopic liver transplantation in an
|
| transplantation has been performed on a
| |
| | infant with type A disease and amniotic
|
| few patients with Type B with encouraging
| |
| | cell transplantation in several patients
|
| results. Possible treatments including is
| |
| | with type B disease have been attempted
|
| enzyme replacement therapy and gene
| |
| | with little or no success.
|
| therapy.
| |
| | Lung transplantation has not been
|
| Causes of Niemann Pick Disease
| |
| | performed in any patient with type B
|
| Common causes and Risk factors of Niemann
| |
| | disease who was severely compromised.
|
