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Home > West Medicine > Internal Medicine > Neurology
百科

Pelizaeus-Merzbacher disease

神经内科

Common symptoms

四肢近端肌肉和...、共济失调、眼球震颤

The pathology of disease

Pelizaeus-Merzbacher disease is X-linked hypomyelinating leukodystrophy; PLP1 duplication; infant boys; nystagmus; developmental delay; hypotonia; children; supportive; pediatric neurology/genetics.

Symptoms

Nystagmus; developmental delay; hypotonia; infant boys; X-linked; PLP1; supportive

Causes

PLP1 duplication/mutation; X-linked; PMD; hypomyelination; boy.

Treatment

Supportive; PT/OT; pediatric neurology/genetics; no cure

Dept

Pediatric neurology / pediatrics / medical genetics.

Warm reminder: Health education reference only; seek care at regular hospital.