Friedreich Ataxia with Impaired Gait, Upper Limb Dysfunction, Diabetes or Cardiomyopathy
Clinical Scenario
This protocol applies to individuals with Friedreich ataxia who present with a combination of functional impairments — including mobility limitations, reduced upper limb function, and communication difficulties — alongside comorbidities such as fatigue, fall risk, poor sleep, diabetes, and/or cardiomyopathy.
Defining Conditions in This Population
- Impaired independent gait / mobility
- Impaired upper limb functionality
- Impaired communication
- Fatigue and poor sleep
- Elevated risk of falls
- Diabetes and/or cardiomyopathy
Approach Overview
The protocol centres on customized assistive technology — matched to each individual's specific functional impairments and comorbidities across mobility, personal care, environmental control, health monitoring, communication, and workplace participation. The full structured regimen specifies which categories of technology apply, and under which clinical conditions.
References
DOI: 10.1186/s13023-022-02568-3
- For individuals with Friedreich ataxia with impaired independent gait/mobility, we suggest the use of customized assistive technology for mobility (e.g., modified vehicle, wheelchair, transfer devices, walkers, and adaptive seating and positioning) to enhance independence in mobility, quality of life, and social and occupational participation, and to reduce falls.
- For individuals with Friedreich ataxia with impaired upper limb functionality, we suggest the use of customized assistive technology for personal care and environmental control (e.g., iPad, home apps, smart watches, Alexa/Siri) to enhance independence in daily activities, quality of life, and social and occupational participation.
- For individuals with Friedreich ataxia and fatigue, a risk of falls, poor sleep, diabetes and/or cardiomyopathy, we suggest the use of health monitoring/alert devices (e.g., monitoring heart rate, steps, sleep, ECG, activity, healthy eating, medication, glucose for Friedreich ataxia-related diabetes) to enhance independence in daily activities and quality of life, and improve medication control.
- For individuals with Friedreich ataxia with impaired communication and workplace difficulties, we suggest the use of customized assistive technology for communication and the workplace (e.g., writing, speech, computer use, tablets, workplace design [adaptive seating and positioning], vision and hearing) to enhance independence in communication, improve quality of life and increase occupational participation.
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