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Nadia Burgess & Sophie Taylor Rheumatology Physiotherapy Team The Royal Liverpool and Broadgreen University Hospitals NHS Trust Physiotherapy in Alkaptonuria
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Contents o Musculoskeletal manifestations of AKU o How can the Physiotherapy profession support the management of AKU o Assessment and treatment modalities o Research
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o In AKU, ochronotic pigment is deposited in all connective tissues, especially cartilage. o This is termed ochronosis. o Ochronosis can occur in tendons, ligaments, heart valves, blood vessels, and the skin. o The binding of the oxidation products of HGA to collagen causes degenerative changes in the structure of connective tissue, leading to their fragility. o Ochronotic arthropathy is a rare condition found in patients alkaptonuria. Musculoskeletal manifestations of AKU
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Alkaptonuria (AKU) is characterised by many features but dominated by premature, severe arthritis Joint disease due to ochronosis causes the most disability in those with AKU The knees, hips, shoulders, elbows, sacroiliac joints and lumbar intervertebral discs are all included.
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Musculoskeletal manifestations of AKU o Pain o Loss of range of movement and joint stiffness o Loss of muscle strength and flexibility o Reduced overall function including mobility, gait and balance o Deconditioning and reduced exercise tolerance o Possible need for arthroplasty o Impact on personal independence
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Musculoskeletal manifestations of AKU o Perry et al (2006) identified that disability is common and severe in AKU o Disability correlates well with physical findings of joint restriction and pain o Chronic pain is complex and far reaching in it’s impact Depression Anxiety Loss of social role Social isolation
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THE ROLE OF PHYSIOTHERAPY Detection and diagnosis Assessment Management Monitoring/Evaluation Research
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History Questionnaires Measurements ASSESSMENT
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History Main problem Pain Stiffness Sleep Problems General Health Medication Social history Family life Work Hobbies / Activities
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Questionnaires Overview of Quality of Life Highlights functional problems Measures the outcome of intervention Measures progression and yearly changes
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Measurements Joint/spinal range of movement Muscle power Functional measurements Establish baseline data of functional ability/ROM
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o Assessment o Indentification of current Physiotherapy problems o Discussion re management approaches o Self- Management advice and education o Compilation of report to GP outlining key issues, outcomes of assessment and recommendations for ongoing management from a Physiotherapy Perspective o Onward referral to local services o Liaison with local services re management of the patient’s condition Physiotherapy role in the National Alkaptonuria Centre
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Assessment and treatment modalities o A diagnosis of a long term condition can be an enormous stressor and can impact on the emotional well being of the patient. o Learning to adjust to such a life event is an extremely demanding task.
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Advice and education regarding the following Maintaining and improving exercise tolerance Recognition of symptom & function changes Pain management Pacing and planning Work with patients, their family and carers to promote self- management, optimise function Liaise with other agencies/services/disciplines to optimise patient management Management
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EXERCISE Exercise is the single most important thing you can do to help yourself! (NASS)
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EXERCISE! Exercise is not a useful addition but it is the cornerstone of treatment! AKU & Exercise (NASS)
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BENEFITS OF EXERCISE Increased Flexibility Increased Strength Decreased Stiffness Better Cardiovascular Fitness Improved Balance Improved Posture Decreased Pain Improved function & physical ability Exercise results in improved vitality, physical role and mental health scores (Perry et al, 2006).
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BENEFITS OF EXERCISE Better Sleep Increased energy levels Better Mood Helps with weight management Improved general well- being Feeling of achievement Improved body image & self-esteem Decrease social isolation Improved personal independence
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Disadvantages of Exercise
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o Pain o Reduced energy levels o Fatigue o Lack of self-efficacy o Lack of confidence o Lack of time o Cost o Facilities Barriers to Exercise
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The pain cycle PainAnxietyLow moodInactivity Reduced Strength, mobility & fitness
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Breaking the cycle Pain Start moving understanding Increased normal activity Increased fitness/ endurance Increased confidence & decreased fear Decreased pain
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Programme of Stretches Strengthening Exercises Breathing Exercises Chair based exercise Walking / Nordic walking Cycling Pilates / Yoga / Tai Chi Swimming / Water aerobics Hydrotherapy Golf WII Fit Gym classes such as body balance, body pump, abs strengthening Avoid high impact activities Avoid contact sports TYPE OF EXERCISE
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o Discuss your plans with your physiotherapist o Decide what you want to achieve o Set a SMART goal o Start low and go slow o Don’t expect results overnight o You will feel stiff and sore – DOMs after exercise o If you feel you have done too much, reduce the intensity and build up again gradually o Do something you enjoy that is fun – you’ll look forward to it and stick to it o Involve someone else o A small amount of activity regularly can make a huge difference Getting started
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HYDROTHERAPY Exercise in water gives you freedom of movement!
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Warm water helps you relax & reduces pain Water is supportive so you move more easily Water acts as a shock absorber Water acts as resistance to help strengthen muscles HYDROTHERAPY
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Comprehensive clinical assessment Regular re-assessment Unique exercise plan Swift access to advice during a flare-up or deterioration Access to hydrotherapy RECOMMENDATIONS PHYSIOTHERAPY !
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National Alkaptonuria Centre (NAC) o Metrology o Function o Quality of Life Success of Nitisonone in Alkaptonuria (SONIA 2) o Musculoskeletal assessment Research
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Thank you
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