What Is Lafora Disease?

Lafora disease is also known as Lafora disease, which is an autosomal recessive disease. Occurs in late childhood and adolescence. First belonged to familial myoclonic epilepsy. According to autopsy data, it was found that the cytoplasm of nerve cells in the cerebral cortex thalamus, nigra, pallids, and dentate nucleus contained basophilic inclusion bodies (Lafora bodies), and began to have a new understanding of the disease.

Basic Information

nickname: Lafora disease
English name: Lafora disease
Visiting department: Neurology

Multiple groups: Late childhood and adolescent populations
Common causes: Recessive chromosome
Common symptoms: Convulsions, changes in muscle tone, language involvement, etc.

Causes of La Fora

Lafora's disease is an autosomal recessive inherited disease. For some Lafora's patients who develop after 40 years of age and die in their 50s, they may have different genetic basis.

Lafora's disease clinical manifestations

1. The disease occurs in late childhood and adolescence.

2. Half of the patients started with localized seizures, so they were usually diagnosed with generalized epilepsy in the early stage, developed sexually within months, and developed myoclonic seizures that gradually spread throughout the body. Seizures can be induced or exacerbated by noise, shock, excitement, unexpected tactile stimuli, and some lasting activity, and can even develop into a series of myoclonus, which can turn into generalized convulsions with loss of consciousness.

3. As the disease progresses, myoclonus increasingly interferes with the patient's activities until the function is severely impaired and speech is affected. Neurological examination can reveal changes in muscle tone and slight cerebellar ataxia. Sometimes, prior to the appearance of myoclonus and seizures, patients may have visual hallucinations or present with irritability, an odd temper, and progressive cognitive decline.

4. A few patients have early signs of deafness, and low muscle tone, impaired tendon reflexes, and rare pyramidal tract signs are the later manifestations of the disease.

5. Most have difficulty surviving to the age of 25. For some patients with Lafora's disease who develop disease after age 40 and die in their 50s, they may have different genetic basis.

6. The patient's EEG showed diffuse slow wave and focal or multifocal spike discharge. The disease must be diagnosed by neuropathology. Lafora bodies can be found in cerebral cortical nerve cells using brain tissue biopsy methods. The bodies are round in the cytoplasm of nerve cells with a diameter of 3-30 m. PAS and Alcian blue staining All were positive, and electron microscopy was helpful to confirm the diagnosis.

La Fora disease test

Laboratory inspection

Blood routine, biochemical, and cerebrospinal fluid examination were often found no abnormalities.

2. Other inspections

(1) The EEG showed diffuse slow wave and focal or multifocal spike discharge.

(2) Brain tissue biopsy of Lafora body.

La Fora disease diagnosis

According to the clinical manifestations of the disease, it occurs in late childhood and adolescence; progressive development of myoclonic seizures occurs within a few months, and gradually spreads throughout the body; the patient's EEG shows diffuse slow wave with focal or multifocal spines Wave discharge, etc .; the disease can be considered. The diagnosis must be diagnosed by neuropathology.