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Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder that primarily affects the body’s ability to metabolize cholesterol and bile acids. This leads to a buildup of toxic substances in the body, causing progressive damage to multiple organs, including the brain, spinal cord, and tendons. Due to its wide range of symptoms, CTX is frequently misdiagnosed as multiple sclerosis, autism spectrum disorder, or even hereditary neuropathy. Understanding the source of these symptoms and why they can be misattributed to other conditions can aid in earlier and more accurate identification of the disease.
Because cerebrotendinous xanthomatosis (CTX) presents a complex array of symptoms that affect different organ systems, patients are often misdiagnosed with other more common diseases. Some of the most frequent misdiagnoses include:
Due to its neurological symptoms, such as muscle weakness, coordination problems, and cognitive decline, cerebrotendinous xanthomatosis can often be mistaken for multiple sclerosis (MS). Both conditions involve progressive damage to the nervous system, but they have very different underlying causes. While MS is an autoimmune condition, CTX stems from a metabolic issue related to cholesterol and bile acid processing. Misdiagnosing CTX as MS can result in inappropriate treatments, such as immunosuppressants, which do not address the metabolic dysfunction of CTX. Immunosuppressive therapies would not only fail to treat the metabolic issue causing cerebrotendinous xanthomatosis symptoms but this could also leave the patient vulnerable to infections or other immune system vulnerabilities.
In some children, cerebrotendinous xanthomatosis (CTX) may present with developmental delays, cognitive impairments, and behavioral issues, leading to an early misdiagnosis of autism spectrum disorder (ASD). However, unlike ASD, CTX symptoms are progressive and involve more than just neurodevelopmental challenges. Children with CTX may also experience cataracts, chronic diarrhea, and movement problems that point to a metabolic cause. Without identifying the underlying condition, opportunities for early intervention may be missed, and treatments for autism will likely not be effective.
Patients with cerebrotendinous xanthomatosis (CTX) often experience peripheral neuropathy, or damage to the peripheral nerves, which are outside the brain and spinal cord. Peripheral neuropathy causes tingling, numbness, or a “pins and needles” sensation in the extremities, which can lead to a misdiagnosis of hereditary neuropathy, a condition that also involves nerve damage. However, unlike hereditary neuropathy, CTX is associated with additional systemic symptoms, including tendon xanthomas (cholesterol deposits which appear as yellowish or orange-colored bumps or lumps) and cataracts. A narrow focus on the neuropathy can prevent doctors from identifying the broader signs of CTX.
One of the biggest challenges in diagnosing CTX is the variability of symptoms, which can mimic many other diseases. The key to correctly identifying CTX is genetic testing. CTX is caused by variants in the CYP27A1 gene, which impacts cholesterol and bile acid metabolism. Genetic testing can confirm whether a patient carries these mutations, providing a definitive diagnosis.
If you or a loved one is experiencing persistent respiratory issues, neurological symptoms, or unexplained developmental delays that don’t respond to standard treatments, it may be worth exploring whether CTX could be the underlying cause. Genetic testing can provide answers that traditional diagnostic methods may miss, particularly when multiple systems in the body are affected.
Once CTX is accurately diagnosed, treatment can begin to address the root cause of the disorder. The primary treatment for CTX is chenodeoxycholic acid (CDCA), a bile acid replacement therapy that helps normalize cholesterol and bile acid metabolism. CDCA can slow or even stop the progression of many CTX symptoms, including neurological damage, lung issues, and tendon xanthomas. Additionally, supportive treatments like physical therapy and medications for seizures or cognitive decline may be used to manage individual symptoms.
Early diagnosis and treatment are critical for preventing irreversible damage caused by cerebrotendinous xanthomatosis. When caught early, CDCA treatment can significantly improve the patient’s quality of life and halt the progression of the disease.
At Probably Genetic, we are dedicated to helping patients with rare and often misdiagnosed conditions, like CTX, find answers through genetic testing. Our team understands the frustration that comes with years of misdiagnoses, and we are here to offer no-cost genetic testing and genetic counseling to those who qualify. If you suspect that CTX could be the cause of your or your loved one’s ongoing symptoms, getting tested is a crucial step toward finding the right treatment. Click here to determine your eligibility and get started today.
"Cerebrotendinous Xanthomatosis." National Organization for Rare Disorders (NORD).
Mignarri, Andrea, et al. "Cerebrotendinous Xanthomatosis: Clinical Features and Diagnosis." Orphanet Journal of Rare Diseases, 2014.
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