Lafora Disease

Overview

A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).

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 Lafora Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.490.375.130.650.500|C10.228.140.490.493.063.650.500|C10.574.500.529|C16.320.400.480

Preparing for an appointment about Lafora Disease

If you are speaking with a healthcare professional about Lafora 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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