Niemann Pick Disease - Symptoms, Causes, and Doctors- My Mediland

About- Niemann-Pick disease is a rare, inherited medical condition that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. It can affect the nerves, brain, liver, spleen, bone marrow, and lungs.

Symptoms-

A cherry-red spot inside the eye

An enlarged liver

An enlarged spleen

Brain damage

Clumsiness

Coordination problem

Delayed growth

Dementia

Difficulty feeding

Difficulty moving eyes

Difficulty performing basic motor skills

Difficulty speaking

Difficulty swallowing

Difficulty walking

Dystonia

Essential tremors

Hearing loss

High lipids level in the blood

Intellectual disability

Jaundice

Learning difficulty

Low level of blood platelets

Lung problems

Mental retardation

Pneumonia

Poor muscle tone

A problem in the peripheral nerve

Psychiatric disorders

Seizures

Sleep problems (insomnia)

Swollen lymph nodes

Unsteadiness

Vision loss

Causes-
Niemann-Pick disease is caused by specific gene mutations.

Specialists to visit

Gastroenterologist

Neurologist

Ophthalmologist

Pediatrician

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References
https://en.wikipedia.org
https://www.mayoclinic.org
https://www.healthline.com