Management of Progressive Ataxia - Dr John Ealing
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This presentation was given by Dr John Ealing, Consultant neurologist at Salford Royal NHS Foundation Trust, at the Care of Ataxia Patients (COAP) Study Day in Manchester on 18 November 2011. It summarises the symptoms and management of the progressive ataxias and briefly outlines specific therapies.
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Management of Progressive Ataxia - Dr John Ealing
- 1. Management of progressive ataxia Dr John Ealing
- 2. Introduction • General neurology clinic • Specialist services for – MND – neurofibromatosis types 1 and 2 • An interest in genetic diseases – Inherited ataxias – Idiopathic ataxias
- 3. Not just finger nose testing! • Mobility • “Medical” – Gait – Cardiac function – Driving – Diabetes – Public transport – Neuropathy • Communication – Dystonia • Cognition – Myopathy – Spasticity • Work, finance, – Autonomic function benefits, social life • Every other disease • Nutrition – Things unrelated to • Elimination ataxia! • Sexual function • Pain
- 4. Potential referrals • Neuro-rehabilitation service • Secondary care – Physiotherapy – Palliative care – Occupational therapy – Neuro-urology – Speech and language therapy – Genetic medicine – Cardiology – Endocrinology • GPs – Gastroenterology – Social worker – Ophthalmology – District nurses/community matrons – Mental health teams – Continence teams – Writington Assessment Centre for Driving
- 5. Nurse Specialists • MND/NF1 and NF2 services rely on dedicated nurse specialists for their success • Patient support, advice and information • Patient advocates • Liaise between allied health professionals • Improve concordance – Appointments – investigations – therapies • Support “joined up” care
- 6. Outline • Generic treatments for progressive ataxia – Therapy services – Medical – Social • Disease modification • Friedreich’s
- 7. Allied Healthcare Professionals • Physiotherapist and Neurophysiotherapist – Anita Watson • Occupational therapists – Jo Hurford • Speech and language therapists
- 8. Attendees SLT Nursing Genetics Neurorehab Neurologist Ataxia NGOs OT Physio 0 10 20 30 40
- 9. SLT • Progressive dysphagia – Swallow assessment – Tips on safe swallow • Chin tuck • Double swallow • Position • Patience when eating – Food types and consistency – Saliva management (thick or thin)
- 10. SLT • Communication – Self monitoring – Over articulation – Shorter phrases – Lee Silverman Voice Training (LSVT) – Communication aids (paper and pen, lightwriter, ipad/iphone, alternative and augmentative communication (AAC))
- 11. Driving Fitness to drive – 90 – Make sure that you are fit to drive. You MUST report to the DVLA any health condition likely to affect your driving. • Failure to do so is a criminal offence • May invalidate their car insurance in the event of an accident • Driving assessment centres can be very helpful (£50)
- 12. Drugs • As little as possible!
- 13. Spasticty • Worsened by pain, constipation, bladder, inappropriate seating • Consider – Baclofen – Tizanidine – Benzodiazepines – Gabapentin/pregabalin • Side effects: sedation, weakness, weight gain
- 14. Dystonia • Avoid systemic agents due to side effects • Targeted, focal therapy with botox • Referred to neurorehab or movement disorders team
- 15. Affective disorders • Depression/anxiety – Counselling – Psychology – Psychiatry – On-line CBT – Medication • SSRI • Tricyclics
- 16. Pain • Avoid generic prescribing of opiates • Choose appropriate analgesia for pain – E.g. if nerve pain then tricyclics/anticonvulsant Rx • Consider whether manifestation of depression • Holistic “pain team” approach might be more helpful
- 17. Constipation • Commonly secondary to reduced mobility or opiate analgesia • Reduce/withdraw opiates • Higher fibre with sufficient fluid intake • Regular bowel regime rather than episode use of “dynamite” • Ataxic patients can also get diverticulitis, bowel tumours, IBS
- 18. Bladder disturbance • Hyperactive bladder: urgency, frequency, incontinence – Regular toileting – Reduce “water tablets” for dependent oedema – Reduce caffeine/alcohol – Consider anticholinergics – Ensure adequate emptying with pre and post micturition bladder scan – Continence teams and neuro-urology (botox?)
- 19. Bladder disturbance • Underactive bladder – Continence teams – ISC or catherisation/suprapubic catheter • Ataxic patients can also get – Prostatic hypertrophy/malignancy – Stress incontinence – UTIs
- 20. Tremor • Anecdotal evidence for many but limited hard evidence – Beta blockers – Anti-epileptic medication (pregabalin, gabapentin, topiramate) – Benzodiazepines – Functional neurosurgery
- 21. Disease specific therapies • Immunological basis – Gluten ataxia: gluten free diet – Paraneoplastic: remove the primary tumour • Nutritional deficit – B12 deficiency – Vitamin E deficiency – CoQ10 deficiency
- 22. Specific therapies • Toxic substance – Phenytoin: replace – Alcohol: reduce (preferably stop) – Copper: decopper using dietary restriction and chelating agents – Cerebrotendinous xanthomatosis: normalise bile acid synthesis with chenodeoxycholic acid
- 23. Specific therapies • Ion channel disorders – Caused by mutation in the proteins that form pores on the cell surface of all cells – Play pivotal role in nerve and muscle cell function – Mutations result in over or under activity of the ion channels – Make cells more or less excitable – Episodic ataxias: episodic symptoms
- 24. Episodic Ataxias • EA1: – Brief episodes of unsteadiness, spasms or choreaform movements, persistent myokymia – Mutation in K+ channels – Acetazolamide, carbamazepine, phenytoin • EA2: – Prolonged (hours) episode ataxia – Progressive ataxic syndrome in some – Mutations in Ca2+ channels – acetazolamide, topiramate
- 25. Friedreich’s ataxia (FA) • Multisystem disorder due to severe lack of protein called frataxin • Loss of iron-sulphur clusters • Results in mitochondrial dysfunction • Brain, nerve, cardiac muscle and pancreatic function • Inherited in autosomal recessive manner – Two faulty copies of the disease gene to be symptomatic, carriers (one faulty copy) are normal
- 26. Friedreich’s ataxia (FA) • Gait and speech disturbance in teenage years • Cardiology – (Hypertophic) cardiomyopathy – arrythmias • Endocrinology – Diabetes (plus its complications) • Skeletal – Scoliosis. Pes cavus • Auditory – Difficulty with speech recognition
- 27. Mechanism of disease • Low frataxin levels ↑Fe • Loss of FeS clusters • Build up of Fe • Build up of free ↓↓frataxin radicals • Free radicals cause ↑free radicals ↓FeS clusters cell damage and cell death
- 28. Novel treatments • Increase frataxin ↑Fe – Gene therapy – Increase transcription – Replace frataxin ↓↓frataxin • Reduce Fe – Fe chelators ↑free radicals ↓FeS clusters • Reduce free radicals – antioxidents
- 29. Summary • Complex patients requiring multiple health and social care professionals • Little curative therapy so far • Ideally suited to coordinated care using MDT/nurse specialist approach • Potential for disease modification in Friedreich’s ataxia.
- 30. Thanks for listening