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:

Ataxia-Telangiectasia

Also known as ataxia-telangiectasia syndrome or Louis-Bar syndrome.

What is Ataxia-Telangiectasia?

• This is a rare disease with neurodegenerative properties that causes severe debilitation and disability
• The name ataxia-telangiectasia refers to the characteristic combination of disease symptoms
  • Ataxia – Poor coordination and control of movement
  • Telangiectasia – Small, dilated blood vessels
• The disease affects many different systems of the body
• The prevalence of the disease isn’t well known but is estimated to range from 1 in 40,000 to 1 in 300,000 births
• Diagnosis is typically suspected based on a combination of neurologic features, specific abnormalities found in lab tests, and is typically confirmed by an absence or deficiency of the ATM protein

How Do You Get It?

• Ataxia-telangiectasia is inherited in an autosomal recessive pattern, meaning that each parent must be a carrier of a mutated gene
• The disease is linked to mutations impacted the ATM gene
  • This gene is involved in the identification
• All genders and racial groups are equally likely to be affected

What Are the Symptoms?

• Symptoms of ataxia-telangiectasia include:
  • Involuntary movements
  • Ataxia
  • Premature changes in hair and skin
  • Oculomotor apraxia
  • Early-onset diabetes
  • Telangiectasia
  • Dysarthria (slowed, slurred speech)
  • Frequent infections, often of the lungs, ears, and sinuses
  • Delayed growth
  • Drooling
  • Greatly increased risk of cancer, particularly lymphoma and leukemia
  • Increased risk of autoimmune disease and chronic inflammatory conditions
  • Delayed onset or incomplete puberty
  • Early menopause
• These symptoms usually appear in early childhood, when the child is beginning to sit up or walk on their own.
• Symptoms often begin to progress further after age 4-5

How Is It Treated?

• There is no disease modifying therapy for ataxia-telangiectasia
• Antibiotic regimens may be necessary to treat lung disease and other infections, which can be frequent
• Patients should take precautions to avoid exposure to infectious illness
• Due to difficulties with chewing and swallowing, special diets or other assistants may be needed
• Patients require special education accommodations due to developmental and sensory challenges
• Most patients survive into early adulthood

Where Can I Learn More???

• Check out our cornerstone on the disease here.
• Learn more about this illness from the National Ataxia Foundation.