Diagnostic Criteria

No consensus clinical diagnostic criteria for progressive myoclonus epilepsy, Lafora type, also known as Lafora disease, have been published.

Suggestive Findings

Lafora disease should be suspected in a previously healthy older child or adolescent (usually in the early teens) with the following clinical manifestations and family history:

Clinical manifestations

Source: GeneReviews — "Progressive Myoclonus Epilepsy, Lafora Type"

Differential Diagnosis

Genes of interest in the differential diagnosis of progressive myoclonus epilepsy, Lafora type (also known as Lafora disease), are listed in . Table 3. Genes of Interest in the Differential Diagnosis of Progressive Myoclonus Epilepsy, Lafora Type

Management Guidelines

No clinical practice guidelines for progressive myoclonus epilepsy, Lafora type, also known as Lafora disease, have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Lafora disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Lafora Disease: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Neurologic

| Neurologic eval | To incl brain MRI EEG

Development

| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval

• Eval for early intervention/ special education

Neurobehavioral/

Psychiatric

| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD

Genetic counseling

| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of LD to facilitate medical personal decision making

Clinical Guidance

As in other forms of progressive myoclonic epilepsies, the use of phenytoin as maintenance therapy should be avoided. Anecdotal reports describe possible exacerbation of myoclonus with the following:

• Lamotrigine

• Carbamazepine

• Oxcarbazepine

Source: GeneReviews — "Progressive Myoclonus Epilepsy, Lafora Type"

Therapies Under Investigation

An open-label trial with add-on perampanel in ten individuals with Lafora disease showed significant reduction in seizures greater than 74% from baseline in four individuals. Seven had major improvement in myoclonus. Three withdrew due to inefficacy or side effects. There was no improvement in disability or cognition . Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Progressive Myoclonus Epilepsy, Lafora Type"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Lafora Disease: Recommended Surveillance

System/Concern | Evaluation | Frequency

Neurologic

| • Monitor seizures as clinically indicated.

• Assess for new manifestations such as seizures, changes in tone ataxia.

| At each visit

Development

| Monitor developmental progress educational needs.

Neurobehavioral/Psychiatric

| Behavioral assessment for anxiety, ADHD, ASD, aggression, self-injury

Musculoskeletal

| Physical medicine, OT/PT assessment of mobility, self-help skills

Feeding

| • Measurement of growth parameters

• Eval of nutritional status safety of oral intake

Respiratory

| Monitor for evidence of aspiration, respiratory insufficiency.

Family/Community

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Progressive Myoclonus Epilepsy, Lafora Type"