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(G60.1) Refsum disease
More details coming soon
127 032 in individuals diagnosis refsum disease confirmed
4 684 deaths with diagnosis refsum disease
4% mortality rate associated with the disease refsum disease
Diagnosis refsum disease is diagnosed Men are 3.18% more likely than Women
65 533
Men receive the diagnosis refsum disease
2 433 (3.7 %)Died from this diagnosis.
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61 499
Women receive the diagnosis refsum disease
2 251 (3.7 %)Died from this diagnosis.
Risk Group for the Disease refsum disease - Men and Women aged 10-14
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 0-1, 90-94
In Women diagnosis is most often set at age 0-89, 95+
Disease Features refsum disease
Absence or low individual and public risk
Refsum disease - what does this mean
Refsum disease is an inherited disorder caused by a deficiency of an enzyme called phytanoyl-coa hydroxylase, which leads to the accumulation of phytanic acid in the body. this can cause damage to the nervous system, eyes, heart, and other organs. symptoms may include hearing loss, vision problems, ataxia, peripheral neuropathy, and skeletal abnormalities.
What happens during the disease - refsum disease
Refsum disease is an autosomal recessive disorder caused by a deficiency in the enzyme phytanoyl-coa hydroxylase, resulting in the accumulation of phytanic acid in the body. this accumulation leads to a variety of symptoms, including peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia, hearing loss, and cardiomyopathy. it can also cause skeletal abnormalities, such as scoliosis.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Blood tests to measure levels of phytanic acid
- Genetic testing to detect mutations in the PEX gene
- Nerve conduction studies to measure nerve impulse transmission
- Electromyography to measure muscle activity
- Imaging tests such as MRI or CT scans to look for signs of nerve damage
- Ophthalmologic exam to check for vision problems
- Audiologic exam to check for hearing problems
- Kidney function tests to check for kidney damage
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Refsum disease.
- Regular exercise
- A low-fat diet
- Avoiding alcohol and smoking
- Taking vitamin B supplements
- Wearing supportive shoes
- Taking medications to reduce nerve pain
- Physical therapy to improve strength and coordination
- Surgery to correct joint deformities
- Occupational therapy to improve daily functioning
- Speech therapy to improve communication skills
18 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Refsum disease - Prevention
Refsum disease can be prevented by avoiding exposure to phytanic acid, which is found in some animal fats, dairy products, and certain fish. it is also recommended to limit the intake of alcohol, as this can increase the risk of developing the disease.