Niemann-Pick disease

Sphingomyelin accumulation syndrome

Niemann-Pick disease is a group of inherited metabolic disorders in which harmful amounts of fatty substances accumulate in cells, particularly in the spleen, liver, lungs, bone marrow, and brain.

The buildup results from enzyme deficiencies that prevent normal lipid processing.

Symptoms vary by type but may include enlarged organs, neurological decline, and in severe forms, early death.

Named for the German physicians who first described it.

clinical

neurodegeneration

Progressive loss of neurons

hypotoniaDecreased muscle tone condition
ataxiaImpaired voluntary movement control
dysphagiaMedical swallowing difficulty

seizures · cataplexy · jaundice · dystonia · tremor

pathology

neurodegeneration

Progressive loss of neurons

demyelinationNerve sheath degradation
histopathologyDisease study through tissue

genetic

mutation

Permanent DNA alteration

genotypeOrganism's complete allele set
phenotypeObservable characteristics of organism
allelesVariant forms of genes

heritability · pathogenic · genomics · chromosome · DNA · biomarkers · familial · consanguinity · heterozygote · homozygote

prognosis

progressive

Favoring reform and innovation

degenerativeCausing progressive decline
incurableCannot be healed
terminalAt the endpoint

infantile · juvenile · severity

treatment

palliative

Offering relief, not remedy

Niemann-Pick disease

neurodegeneration

neurodegeneration

mutation

progressive

palliative

Niemann-Pick disease

Opposites

Categories

Family