Refsum Disease

Disease database

Refsum disease is a rare genetic disorder that affects multiple systems in the body. It is characterized by a variety of symptoms, including retinitis pigmentosa, hearing loss, peripheral neuropathy, ataxia, anosmia, ichthyosis, cardiomyopathy, polyneuritis, and skeletal abnormalities. This article will delve into each of these symptoms and explore the potential treatment options for this complex disease.

Retinitis Pigmentosa

One of the primary symptoms of Refsum disease is retinitis pigmentosa, a degenerative eye condition that leads to vision loss. This condition affects the retina, causing the gradual deterioration of the light-sensitive cells. Individuals with Refsum disease may experience night blindness, tunnel vision, and difficulty seeing in low light conditions. Regular eye examinations and the use of visual aids can help manage the symptoms of retinitis pigmentosa.

Hearing Loss

In addition to vision problems, Refsum disease can also cause hearing loss. This can range from mild to severe and may require the use of hearing aids or other assistive devices. Regular hearing evaluations are essential to monitor any changes in hearing ability and to provide appropriate interventions.

Peripheral Neuropathy

Peripheral neuropathy is a condition that affects the nerves outside of the brain and spinal cord. It can cause numbness, tingling, and weakness in the extremities. In Refsum disease, peripheral neuropathy often manifests as a loss of sensation in the hands and feet. Physical therapy and occupational therapy can help manage the symptoms and improve overall function.


Ataxia refers to a lack of muscle coordination, which can affect movements such as walking, balance, and fine motor skills. Individuals with Refsum disease may experience ataxia due to the damage to the nervous system. Physical therapy and assistive devices can help individuals with ataxia maintain mobility and independence.


Anosmia is the loss of the sense of smell. It is a common symptom of Refsum disease and can impact an individual’s ability to detect odors and taste food properly. While there is no cure for anosmia, certain techniques such as flavor enhancement and texture modification can help individuals enjoy their meals.


Ichthyosis is a skin disorder characterized by dry, scaly skin. It is a common symptom of Refsum disease and can cause discomfort and itchiness. Regular moisturizing and the use of gentle skincare products can help manage the symptoms of ichthyosis.


Cardiomyopathy refers to a group of diseases that affect the heart muscle, making it harder for the heart to pump blood effectively. In Refsum disease, cardiomyopathy can lead to heart failure and other cardiovascular complications. Treatment options for cardiomyopathy may include medication, lifestyle changes, and in severe cases, heart transplantation.


Polyneuritis is the inflammation of multiple nerves in the body. It can cause pain, weakness, and loss of sensation. In Refsum disease, polyneuritis can contribute to the peripheral neuropathy symptoms. Treatment may involve pain management techniques, physical therapy, and medications to reduce inflammation.

Skeletal Abnormalities

Individuals with Refsum disease may also experience skeletal abnormalities, such as scoliosis (curvature of the spine) or joint deformities. These abnormalities can impact mobility and overall quality of life. Orthopedic interventions, such as braces or surgery, may be necessary to manage skeletal abnormalities.

Treatment Options

While there is currently no cure for Refsum disease, certain treatment options can help manage the symptoms and improve quality of life. These may include:

  • Dietary changes: A diet low in phytanic acid, a substance that accumulates in the body due to a deficiency in the enzyme responsible for its breakdown, may help reduce symptoms.
  • Medications: Certain medications, such as plasmapheresis, can help remove phytanic acid from the bloodstream.
  • Physical therapy: Physical therapy can help improve mobility, strength, and coordination.
  • Assistive devices: The use of assistive devices, such as hearing aids, mobility aids, and visual aids, can enhance independence and quality of life.
  • Regular monitoring: Regular check-ups with healthcare professionals specializing in the various symptoms of Refsum disease can help manage and monitor the progression of the disease.

It is important for individuals with Refsum disease to work closely with a multidisciplinary healthcare team to develop a personalized treatment plan that addresses their specific needs and symptoms.

In conclusion, Refsum disease is a complex genetic disorder that affects multiple systems in the body. The symptoms can vary widely, from vision and hearing loss to peripheral neuropathy and skeletal abnormalities. While there is no cure for Refsum disease, various treatment options can help manage the symptoms and improve quality of life. By understanding the different aspects of this disease and working closely with healthcare professionals, individuals with Refsum disease can lead fulfilling lives despite the challenges they may face.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
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