The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of metabolism/homeostasis||-|
|Autosomal recessive inheritance||-|
|Bilateral convulsive seizures||-|
|Generalized myoclonic seizures||-|
|Generalized tonic-clonic seizures||-|
|Progressive neurologic deterioration||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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Have there been any advances that suggest anything can slow the progression of disease? Why is there so little information on this disease? Are there any other resources that show up to date information? See answer
Is a ketogenic diet known to help individuals with Lafora disease? See answer
Can an adult get Lafora disease? See answer