Alexander Disease - Symptoms, Causes, and Doctors- My Mediland

About- Alexander disease also known as fibrinoid leukodystrophy is a rare nervous system disorder due to destroyed myelin, characterized by the disrupted transmission of nerve impulses and impaired nervous system functions.

Symptoms-

Spasms

Learning disability

Enlarged head size

Hydrocephalus (fluid in the brain)

Enlarged brain

Development delay

Seizures

Failure to thrive

Impaired mobility

Speech problems

Muscle stiffness and restriction of movement (spasticity)

Lack of coordination (ataxia)

Nausea and Vomiting

Mental regression

Difficulty swallowing, coughing, and breathing

Sleep disorder

Causes-
Alexander disease occurs due to a defect in the Glial Fibrillary Acidic Protein (GFAP) gene

Specialists to Visit

Endocrinologist

Neurologist

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References-
https://en.wikipedia.org
https://www.healthline.com
https://rarediseases.info.nih.gov
https://ghr.nlm.nih.gov
https://rarediseases.org