Disease definition
Historical delineation
Definition of Niemann-Pick disease type C
Disease name and synonyms
Epidemiology
Clinical Description
Perinatal presentation
Early infantile period (2 months-2 years)
Systemic stage
Severe early infantile neurologic onset form
Late infantile period (2 to 6 years)
Systemic stage
Late infantile neurologic onset form
Juvenile period (6-15 years) (classical form)
Systemic stage
Juvenile neurologic onset form
Adolescent and adults (>15 years)
Systemic adult form of NP-C
Adult neurologic onset form
Etiology
Lipid accumulation in tissues
Cell biology and cholesterol transport, and the brain enigma
The NPC1 and NPC2 proteins
Disease-causing mutations and genotype-phenotype relationships
Diagnostic methods
Initial clinical assessment
Neurophysiologic and neuroradiologic studies
Histology
Non-specific laboratory analyses
Specific laboratory diagnosis
Biochemical/cell biology study: the "filipin" test
Genetic testing
Differential diagnosis
Genetic counseling
Antenatal diagnosis
Management including treatment
Symptomatic management
Specific treatment
Disease monitoring
Ambulation | Score | Language | Score |
---|---|---|---|
Normal | 1 | Normal | 1 |
Autonomous ataxic gait | 2 | Mild dysarthriad | 2 |
Outdoor assisted ambulation | 3 | Severe dysarthriae | 3 |
Indoor assisted ambulation | 4 | Non-verbal communication | 4 |
Wheelchair bound | 5 | Absence of communication | 5 |
Manipulation
|
Swallowing
| ||
Normal | 1 | Normal | 1 |
Slight dysmetria/dystoniaa | 2 | Occasional dysphagia | 2 |
Mild dysmetria/dystoniab | 3 | Daily dysphagia | 3 |
Severe dysmetria/dystoniac | 4 | NG tube or gastric button feeding | 4 |