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Diseases » Niemann-Pick disease » Glossary

Glossary for Niemann-Pick disease

Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
Brain symptoms: Symptoms affecting the brain
Cognitive impairment: General loss of mental or cognitive ability
Dementia: Various mental impairment conditions.
Difficulty walking: Where ones has a problem with mobilizing on ones feet
Dysarthria: Imperfect articulation of speech
Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
Liver enlargement: This is where there is an enlargement of the liver
Lung symptoms: Symptoms affecting one or both lungs.
Macula halo syndrome: A term used to describe patients with a halo-like opacity around the foveola of the eyes as well as a histiocytic storage disease. It is considered a variant of Niemann-Pick disease.
Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
Swallowing difficulty: Difficulty or pain when swallowing
Swollen spleen: Swelling or enlargement of the spleen