Pelizaeus-Merzbacher Disease

Overview

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Pelizaeus-Merzbacher Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.362.775|C10.228.140.695.625.775|C10.314.400.775|C16.320.322.906|C16.320.565.189.362.775|C18.452.132.100.362.775|C18.452.648.189.362.775

Preparing for an appointment about Pelizaeus-Merzbacher Disease

If you are speaking with a healthcare professional about Pelizaeus-Merzbacher Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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