FXTAS

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a late-onset neurological condition that can cause action tremor, gait and balance problems (ataxia), parkinsonism-like slowness, and cognitive changes. It is linked to a Fragile X premutation and most commonly affects older adults.

At The Royal Buckinghamshire Hospital, we provide consultant-led inpatient neurorehabilitation for adults living with FXTAS. Our programmes target tremor, mobility, cognition and confidence to improve everyday independence.

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Symptoms

Symptoms vary in severity and typically progress over time:

• Action or intention tremor (worse with movement)
• Ataxia – unsteady, wide-based gait; poor coordination
• Bradykinesia and stiffness resembling parkinsonism
• Falls or near-falls, difficulty turning or dual-tasking
• Cognitive slowing, attention and executive difficulties
• Mood changes, anxiety or apathy; fatigue and sleep disruption
• Peripheral neuropathy symptoms (numbness, tingling) in some people

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Diagnosis

Diagnosis is made by a specialist based on history, examination and supportive tests:

• Neurological assessment of tremor, gait and cognition
• MRI brain (often shows characteristic white-matter changes in the middle cerebellar peduncles)
• Genetic testing for a Fragile X premutation (when appropriate)
• Neuropsychological evaluation to profile cognition and guide therapy

Medical treatment is symptom-based (e.g., tremor or parkinsonism medicines). There is currently no disease-modifying cure.

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Rehabilitation At The Royal Buckinghamshire Hospital

Our inpatient neurorehabilitation addresses motor, cognitive and functional needs together.

Your Programme May Include

Neurophysiotherapy

• Tremor-aware movement strategies, coordination and balance training
• Gait practice (step length, turning, dual-task tolerance), falls prevention
• Strength, posture and endurance programmes

Occupational Therapy

• Task adaptation for writing, eating, dressing and technology use
• Energy conservation and fatigue management
• Home/environmental modifications; equipment and seating advice

Neuropsychology

• Attention and executive strategies; memory supports and routine building
• Mood and adjustment therapy; carer education and coping skills

Speech & Language Therapy (as required)

• Communication strategies for low volume or dysarthria
• Swallow screening and compensatory advice if needed

Education & Discharge Planning

• Personalised home exercise plan, falls plan and community therapy handover
• Practical guidance for carers and family involvement

Explore Our Rehabilitation Centre
Sensory Ataxia
Idiopathic Parkinsonism

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When To Consider Inpatient Rehab

• Increasing falls, near-falls or fear of falling
• Tremor or ataxia that limits daily activities despite outpatient therapy
• Emerging cognitive or mood difficulties affecting independence
• Need for co-ordinated, multidisciplinary input and carer training

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Living Well With FXTAS

• Follow a structured activity plan with regular rests to manage fatigue
• Use visual and auditory cues for step initiation and turning; avoid rushing
• Optimise home safety (lighting, clutter, grab rails, footwear)
• Consider adaptive utensils, weighted pens and assistive tech for tremor
• Maintain sleep, hydration and nutrition; share strategies with family/carers