The Rare
Diseases

That Need
Our Attention

Genetic Neurology

Cerebrotendinous Xanthomatosis

What it is

Cerebrotendinous xanthomatosis (CTX) is a rare, progressive and underdiagnosed disorder of cholesterol metabolism affecting many parts of the body.

In people with CTX, the body is unable to break down cholesterol properly causing toxins (e.g., cholestanol and bile alcohols) to build up throughout the body over time. The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one copy of the mutated gene.

Signs and Symptoms

Signs and symptoms of CTX include neonatal cholestasis (jaundice or bile flow interruption), chronic diarrhea, the development of bilateral cataracts before the age of 18, development of tendon xanthomas (fatty deposits in the tendons) during teenage years or later, and neurologic deterioration. The types, combinations and severity of symptoms can be different from person to person, making diagnosis challenging and often delayed.

Neonatal Cholestasis
Chronic Diarrhea
Bilateral Cataracts
Tendon Xanthomas
Neurologic Deterioration
Signs and Symptoms

There is an FDA approved treatment option in the U.S. for adult patients with cerebrotendinous xanthomatosis (CTX):

LEARN ABOUT THE FDA APPROVED TREATMENT >

Fragile X Syndrome

What it is

Fragile X syndrome (FXS) is a rare, neurological disorder and is the leading inherited form of intellectual disability and autism spectrum disorder. 3

FXS is believed to be caused by a mutation in the FMR1 gene.4 An imbalance in inhibitory and excitatory neuronal circuits is believed to be the underlie of many of the clinical manifestations of this disorder.

Prevalence

FXS occurs in about 1 in every 7,000 males and 1 in every 11,000 females in the US.5

Signs and Symptoms

People with FXS may notice symptoms as early as 12 months.3 Some of the physical features of FXS may include flat feet, flexible joints, large ears, and low muscle tone. People with FXS can present with severe behavioral alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures.3,6 Additionally, people with FXS may experience learning disabilities, sensory processing challenges, poor eye contact, ADHD, and sleep disorders.3

Learning Disabilities
Sensory Processing Challenges
Seizures
Poor Eye Contact
ADHD
Sleep Disorders

References

  1. Cerebrotendinous Xanthomatosis: MedlinePlus Genetics. medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis.
  2. CTX Disease – Patient Overview | About CTX. www.aboutctx.com/patient.
  3. Fragile X 101. National Fragile X Foundation. https://fragilex.org/understanding-fragile-x/fragile-x-101/
  4. Fragile X syndrome. Medline Plus. https://medlineplus.gov/genetics/condition/fragile-x-syndrome/#resources
  5. Fragile X Syndrome. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome
  6. Fragile X syndrome. Better Health Channel, Victoria State Government, Department of Health. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/fragile-x-syndrome#effects-of-fragile-x-syndrome
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