The symptoms with the different types of the Niemann Pick illnesses strongly differ:

Type A
- The first symptoms shortly after the birth or in the first life months
- Strong Neugeborenengelbsucht (Neugeborenenikterus)
- Liquid aggregation in the free belly cave (abdominal dropsy or Aszites)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Delay of the physical development (Gedeihstörungen)
- Decreased muscle tension (Muskelhypotonie)
- Increasing loss already of learned abilities like running, to seats, speech
- Cherry-red Flecken in the eyes (with approx. to a third of the patients)
- More quickly physical and spiritual decay
- Life expectancy: 2 - 5 years

Type B
- Individually very variable illness course
- The first symptoms as a rule between the 10th and 12-th year
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Irregularities in the blood count (Hämatologische anomalies)
- General infection susceptibility
- Lung illnesses (Pneumopathien, emphysema, interstitielle lung illness)
- Stunted growth
- Seldom neuro-logical problems
- Many affected persons reach the adult's age

Type C
- The first symptoms most often with children at the school age (nevertheless, till 6. Life decade possibly)
- Very typically: vertical Blickparese (with 90% of all affected persons in all age steps provably)

Symptoms at the baby or toddler age:
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Liquid aggregation in the free belly cave (abdominal dropsy or Aszites)
- Strong Neugeborenengelbsucht (Neugeborenenikterus)
- Lung illnesses (Lungeninfiltrate, interstitielle lung illness)
- Decreased muscle tension (Muskelhypotonie)
- Psychomotor Entwicklungsverzögeurng

Symptoms at the school age:
- Learning difficulties with declining cognitive abilities
- Speech disturbances (Dysarthrie)
- Problems with the gulp (Dysphagie)
- Epilepsy (approx. with a third)
- Sudden loss of the muscular strength (Kataplexie, with approx. 20%)
- Disturbance of the movement coordination (Ataxie)
- Apraxie (neuro-logical motor disturbance)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)

Symptoms with youngsters and adults:
- Psychiatric symptoms (depression or schizophrenia)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Disturbance of the movement coordination (Ataxie)
- Apraxie (neuro-logical motor disturbance)
- Speech disturbances (Dysarthrie)
- Problems with the gulp (Dysphagie)

For more information:

Orphanet - The portal for rare diseases and Orphan Drugs
Niemann-Pick-c.com (Actelion)
Genetics Home Reference (U.S. National Library of Medicine, Dep. of Health and Human Services)
University of Notre Dame (Indiana, USA)

Medical information on this website is maintained by Matthias Oetterli (journalist BR and father of an NPC patient). Information is checked by Dr. med . Marianne Rohrbach, Department of Metabolic Diseases, University Children's Hospital Zurich (CH).

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