Fragile X-Associated Tremor Ataxia Syndrome

Fragile X-Associated Tremor/Ataxia Syndrome

Orchard at Brookhaven is a senior community in Atlanta that is committed to supporting people with a variety of needs.  This also includes the many different types of neurocognitive disorders commonly called dementia.

Currently there are over 110 medical conditions causing the symptoms of dementia.  Unlike many senior livings, the staff at Orchard will be uniquely trained to support people living with a variety of neurocognitive disorders.  Teams will specialize in the unique behavioral expressions and symptoms that vary in changing states and stages of neurodegenerative progression. One dementia that is not as common as some is, FXTAS or Fragile X-Associated Tremor/Ataxia Syndrome.

What Is Fragile X-Associated Tremor/Ataxia Syndrome?

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a late onset form of the progressive cognitive disorder that occurs in people older than 50 years of age.

Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.

Symptoms of Fragile X-Associated Tremor/Ataxia Syndrome

Fragile X is characterized by:

  • Tremors when making purposeful movements
  • Challenges with balance
  • Muscle stiffness and rigidity
  • Memory loss
  • Challenges with movement
  • Challenges with thinking and cognition
  • Inability to initiate purposeful action
  • Changes in behavior
  • Changes in ability to initiate or complete activities of daily living (ADL’s)
  • Presentations of Parkinson’s-like symptoms

Fragile X Tremors & Movement Problems

The characteristic features of FXTAS are intention tremors, which is trembling or shaking of a limb when trying to perform a voluntary movement such as reaching for an object, and problems with coordination and balance (ataxia). Typically, intention tremors will develop first, followed a few years later by ataxia, although not everyone with FXTAS has both features.

Many affected individuals develop other movement problems such as the pattern of movement abnormalities known as parkinsonism, which includes tremors when not moving (resting tremor), rigidity, and unusually slow movement (bradykinesia). Individuals may also have reduced sensation, numbness or tingling, pain, or muscle weakness in the lower limbs. And some people also experience problems with the autonomic nervous system, which controls involuntary body functions, leading to the inability to control the bladder or bowel.

Many people with FXTAS experience anxiety, depression, moodiness, or irritability. Persons may develop cognitive disabilities including short-term memory loss or loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies.  These changes will impair skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility.

How Common Is Fragile X-Associated Tremor/Ataxia Syndrome?

Studies show that approximately 1 in 450 males have the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 are affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop signs and symptoms of FXTAS

Caregivers & Fragile X

Caring for someone living with this rare condition can carry similar stresses experienced by caregivers of other chronic degenerative disorders, such as Alzheimer’s or Parkinson disease.

Numerous investigators have reported that caregivers of individuals with these diseases are likely to experience depression, fatigue, and isolation. Orchard at Brookhaven’s philosophy in care includes family and primary care partners, not just residents needing support and assistance due to medical conditions.

Orchards collaboration with families includes care planning, medical coordinating, education, personal counseling, and a partnership that can lead to improved quality of life for both the care partner and the person living with a medical condition.

If you know someone living with Fragile X-Associated Tremor/Ataxia Syndrome in the Atlanta area, please contact Orchard at Brookhaven for more information and support.

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