Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Lafora Disease

Also called Lafora progressive myotonic epilepsy.

What is Lafora Disease?

• Lafora disease is a rare, childhood to adult-onset genetic disorder characterized by myoclonic epilepsy
• Lafora disease results in the accumulation of inclusion bodies (often called Lafora bodies) in the cytoplasm of various vital organs and organ systems
• This disease progresses rapidly
• The disease is also classified as a glycogen metabolism disorder and a neurodegenerative condition
• Lafora disease is also found in dogs
• Around 4 people per million are affected by Lafora disease
• The illness is named after Gonzalo Rodríguez Lafora, a neuropathologist of Spanish origin who, in the early 1900s, recognized the presence of small inclusion bodies in people with the disease

How Do You Get It?

• Lafora disease is inherited in an autosomal recessive pattern and is the result of loss of function mutations impacting either the EPM2A or NHLRC1 genes
• The disease is more prevalent in areas with a cultural history of incestuous marriages, such as Pakistan, India, North Africa, the Middle East, and Southern Europe

What Are the Symptoms?

• The symptoms of Lafora disease begin to appear in most cases between age 8 and 19
  • Symptoms progress rapidly and there is no clear indication of the disease before these symptoms begin; however, in some cases, learning disabilities become apparent at around age five
  • Symptoms may not appear until later, and these cases tend to progress more slowly
• Symptoms include:
  • Myoclonic and occipital seizures, which are the hallmark symptom of Lafora disease
  • Other seizures types can also appear, such as:
    • Atypical absence seizures
    • Tonic-clonic seizures
    • Complex partial seizures
    • Atonic seizures
  • Ataxia
  • Rapidly developing dementia
  • Drop attacks
  • Hallucinations
  • Temporary vision loss
  • Depression
  • Speech problems

How Is It Treated?

• While anti-convulsant and anti-epileptic therapies can be used to help control seizures, there is no cure for Lafora disease
• In almost all cases, the disease is ultimately lethal, and most patients die within ten years following the onset of symptoms
  • Few patients survive beyond age 25
• Medications used include:
  • Perampanel
  • Valproate
  • Benzodiazepines
  • Levetiracetam
  • Topiramate
  • Metformin

Where Can I Learn More???

• Learn more about Lafora disease from Chelsea’s Hope.