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)
othere description:
A familial progressive autosomal recessive form of epilepsy beginning in childhood and characterized by convulsions, myoclonic jerking, abnormal EEG, resulting in difficulties in voluntary movement and mental deterioration leading to dementia. Onset usually in childhood between 6 and 19 years of age. Symptoms commonly peak at about the age of 15 years. Lafora’s bodies are present in the nervous system, and sometimes in the retina, heart, muscle, and liver. Average time of survival six years. Inheritance is autosomal recessive.It is a clinico-pathologic form of Unverricht’s disease.
Symptoms of Lafora disease:
- Progressive seizures
- Involuntary muscle contraction
- Dementia
- Impaired ability to control voluntary movements
- Speaking difficulty
Bibliography:
- G. A. Schwartz, M. Yanoff:
Lafora's disease. Distinct clinico-pathologic form of Unverricht’s syndrome.
Archives of Neurology, Chicago, February 1965, 12: 172-188.
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