Fragile X–associated tremor/ataxia syndrome is a genetic disorder that affects mostly men and causes tremor, loss of coordination, and eventually dementia.
Fragile X–associated tremor/ataxia syndrome results from a genetic mutation.
Tremors in the hands commonly develop first, followed by loss of coordination, slowed movements, decreased facial expression, and eventually dementia.
Genetic testing can confirm the diagnosis.
Primidone, propranolol, or medications used to treat Parkinson disease can often relieve the tremors.
(See also Overview of Movement Disorders.)
Fragile X–associated tremor/ataxia syndrome may affect as many as 1 of 3,000 men over 50.
Fragile X–associated tremor/ataxia syndrome results from an abnormality (called a premutation) in a gene on the X chromosome (one of the sex chromosomes). The premutation is less extensive than the full mutation that causes Fragile X syndrome, which causes intellectual disability in children. Boys and men have an X and a Y chromosome, and women have two X chromosomes. Men inherit an X chromosome from their mother and a Y chromosome from their father. If the X chromosome they inherit from their mother contains the abnormal gene that causes Fragile X–associated tremor/ataxia syndrome, they have the disorder, which is classified as an X-linked disorder. In X-linked disorders, the symptoms are usually more severe in boys and men. In girls and women, having two X chromosomes may help protect them.
People with the premutation are considered carriers (people who have an abnormal gene for a disorder but do not have the symptoms of the disorder). However, about 30% of men with the premutation and fewer than 5% of women with the premutation develop Fragile X–associated tremor/ataxia syndrome as adults. The risk of developing the disorder increases as people age.
Men with the premutation pass it to their daughters (but not to their sons). Most women with the premutation are unaffected and thus may unknowingly pass the gene on to their sons (grandsons of men with the premutation). Children of such a woman have a 50% chance of inheriting the premutation. When the premutation is passed from mother to child, it sometimes changes into a full mutation, causing Fragile X syndrome in the child.
Dalili za FXTAS
Symptoms of Fragile X–associated tremor/ataxia syndrome usually develop during late adulthood.
The first symptom is often
Tremors in the hands, typically when people try to do a task
Other symptoms include tremors when at rest, loss of coordination (ataxia), slow movements, stiffness, and decreased facial expression (parkinsonian symptoms). As the disorder progresses, loss of coordination worsens.
People may have problems remembering recent events and solving problems. They may think more slowly. Mental function may progressively deteriorate. People may also have personality changes. They may become depressed, anxious, impatient, hostile, and moody.
Sensation in the feet may be lost. Internal organs may malfunction. Affected people may feel light-headed when they stand because blood pressure does not increase as it normally does (called orthostatic hypotension). Eventually, they may lose control of the bladder and bowel movements.
After symptoms appear, people may live from about 5 to 25 years.
In women with the premutation, symptoms are usually less severe, possibly because they have another X chromosome, which seems to protect against the effects of the X chromosome with the premutation. Women with the premutation are more likely to have early menopause and infertility problems than women without the premutation.
Utambuzi wa FXTAS
A doctor's evaluation
Genetic testing
Sometimes magnetic resonance imaging
Fragile X–associated tremor/ataxia syndrome is sometimes missed or mistaken for disorders that cause similar symptoms, such as Parkinson disease or Alzheimer disease. The tremors may be mistaken for essential tremor (a common tremor disorder that rarely causes any other symptoms).
If doctors suspect Fragile X–associated tremor/ataxia syndrome, they ask about symptoms in family members, particularly whether grandchildren have intellectual disability or daughters have had early menopause or infertility problems.
When doctors examine children with Fragile X syndrome, they should find out whether the grandfathers have any symptoms suggesting Fragile X–associated tremor/ataxia syndrome.
Magnetic resonance imaging (MRI) may be done to check for characteristic abnormalities in the brain.
Genetic testing can confirm the diagnosis.
Daughters and grandsons of men with Fragile X–associated tremor/ataxia syndrome should have genetic counseling. Daughters can be tested for the premutation so that they can make decisions about whether or not to have children and whether or not to have prenatal testing if pregnancy occurs.
Matibabu ya FXTAS
Medications to control the tremors
Tremors can often be relieved by primidone (an antiseizure medication), propranolol (a beta-blocker), or many of the medications used to control tremors due to Parkinson disease.
Taarifa Zaidi
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Genetics Home Reference: Fragile X syndrome: This web site describes fragile X syndrome and discusses what causes it and how it is inherited, as well as provides links to its diagnosis and treatment.
