Motor Neurone Disease

1. Motor Neurone Disease Sarah Bray 23rd April 2013

2. Aims • Background • Presentation • Signs • Diagnostic criteria • Differential Diagnoses • Investigation • Research • Symptoms • Symptomatic Management • Preparation and support • Challenges for the GP

3. Curriculum Statement 3.18 Care of People with Neurological Problems • 1.2 Know the epidemiology of common and/or important neurological conditions such as epilepsy, headache and facial pain syndromes, brain infections, neurological causes of vertigo, spinal cord disease, spinal root compression/irritation, peripheral neuropathies, multiple sclerosis, motor neurone disease, Parkinson’s disease and common and/or important movement disorders, brain tumours, and common and/or important inherited and congenital conditions

4. Mrs K • 76 year old lady admitted to MAU with increasing breathlessness, dysphasia, dysphagia and ataxic gait • Previous diagnosis of lacunar stroke but symptoms progressing • On examination thenar and hypothenar wasting, clawing of fingers, fasciculation of arms, hands and tongue and weak, nasal speech • Suspected respiratory muscle weakness and aspiration pneumonia • Seen by neurology – diagnosed with suspected MND, awaiting nerve conduction studies

5. Background • Most cases due to amyotrophic lateral sclerosis (ALS) • Also progressive bulbar palsy, progressive muscular atrophy and primary lateral sclerosis • Family of diseases of unknown aetiology • Progressive degeneration of upper and/or lower motor neurones • Leading to wasting of muscles and weakness • Average survival 40% at 5 years, medial survival 3-5 years • Mean age of onset 56 years • Male : female ratio = 2 : 1 • Annual incidence 2 per 100,000 • Prevalence 5-7 per 100,000

6. Presentation • ALS • Mixed upper and lower motor neurone involvement • 3 recognised patterns: • Limb onset (common) • Bulbar onset (20%) • Respiratory onset (least common) • Primary lateral sclerosis • Pure UMN features • Progressive muscular atrophy • Pure LMN features

7. Upper and lower motor neurons. From Damjanov, 2000.

8. Signs • Upper motor neurone • Generalised spasticity, hyperreflexia, pathologic reflexes, up-going plantar responses and often emotional lability (i.e. pseudobulbar affect) • Lower motor neurone • Weakness, muscle wasting, reduced muscle tone, hyporeflexia and fasciculation • Involvement of bulbar innervated nerves • Dysarthria and dysphagia

9. Diagnostic criteria • Presence of: • Evidence of LMN degeneration by clinical, electrophysiological or neuropathological examination. • Evidence of UMN degeneration by clinical examination. • Progressive spread of symptoms or signs within a region or to other regions, as determined by history or examination. • Together with the absence of: • Electrophysiological and pathological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration. • Neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs.

10. Differential Diagnosis • Important diseases that can mimic MND: • Benign cramp fasciculation syndrome • Cervical radiculomyelopathy (multilevel degenerative disease of the cervical spine) • Dual pathologies • Multifocal motor neuropathy with conduction block • Inclusion body myositis

11. … conditions sharing similar features • Diabetic amyotrophy. • Guillain-Barré syndrome. • Post-polio syndrome. • Spinal cord tumours. • Glioma of brainstem. • Viral plexopathies. • Lyme disease. • Post-radiation myeloplexopathy. • Tay-Sachs disease (adult form). • Cerebrovascular disease and stroke. • Polymyositisor dermatomyositis. • HIV-associated neuropathy/myopathy/radiculopathy (as one of the complications of HIV). • Lepto-meningeal disease, eg due to carcinomatosis or vascular collagen disease. • Spinal muscular atrophy (Kennedy's syndrome). • Hereditary polyneuropathies, e.g. Charcot-Marie-Tooth syndrome. • Focal muscular atrophies (monomelicamyotrophy). • Myasthenia gravis or Lambert-Eaton myasthenic syndrome. • Peripheral nerve lesions, particularly due to diabetic neuropathy. • Thyrotoxicosis with associated myopathy.

12. Investigations • Electrophysiological studies • Electromyography and nerve conduction studies • Exclude other pathologies • CT/MRI brain and/or spine • Bloods • Muscle biopsy

13. Research • Stem-cell transplantation • Autologous mesenchymal stem cells • Allogenic haemopoietic stem cells • Antioxidants

14. Medical Management • Riluzole • Neuroprotective glutamate-release inhibitor • Only drug approved for treatment (NICE) • Slows disease progression • Extends survival and tracheostomy-free life by an average of 3 months • Requires 3 monthly LFTs • MDT input • Neurologist, physiotherapy, OT, SALT, dietician, case manager, GP, district nurses, social worker, palliative care team

15. Symptoms • Weakness (100%) • Constipation (65%) • Pain (50-60%) • Cough (50-60%) • Insomnia (40-50%) • Breathlessness (40-50%) • Dribbling (30-40%) • Pseudobulbar affect (up to 50%) • Anxiety and depression • Mobility problems • Communication difficulties • Psychosocial issues

16. Symptom management • Weakness • Try to maintain comfort, prevent contractures and joint dislocation • Physiotherapy • Insomnia • Try to isolate the cause • Cautious use of night sedation • Respiratory insufficiency/breathlessness • NIV (NIPPV, BiPAP) • Treat infections • Cough-assist device/physiotherapy

17. Symptom Management • Pseudobulbar affect • SSRI, amitriptyline • Pain • Management of cause: • Stiff joints – careful positioning/physiotherapy • Inflammation – NSAID • Joint pains – intra-articular steroid injections • Muscle cramp – quinine sulphate (tonic water) • Muscle spasm – diazepam/baclofen • Skin pressure – regular turning, analgesic ladder • Sensory disturbance - amitriptyline

18. Symptom Management • Dysphagia • SALT and dietetic input • Ice packs or chips • Artificial feeding (NG/RIG/PEG) • Dysarthria • SALT –visual aids, lightwriter, other communication aids • Choking • SALT - swallowing techniques • Suction • Main fear of patients

19. Preparation and Support • Discussion in advance about the patients wishes regarding artificial nutrition and respiratory support, and in what circumstances to stop these • Breathing Space Kit from MNDA • Anticipatory meds • Support for patient and carer(s) • Palliative care services • Day therapy/respite

20. Mrs K • PEG inserted in the month following diagnosis • Attended multidisciplinary MND clinic • Struggling with secretions – hyoscine hydrobrominde and amitriptyline tried, botox injections to parotid glands suggested • NIV supplied but Mrs K reluctant to use

21. Mrs K • 4 months later admitted to hospice with sudden deterioration in mobility • Recent antibiotic course for UTI • Carers QDS but husband struggling • Speech now very poor • Requires hoisting for all transfers • Very tearful

22. Mrs K • Difficult to understand speech but one thing clear, patient consistently requests to go home • Very emotional and tearful • Husband purposefully did not visit for the first 5 days as he felt he needed a break • Via telephone contact he felt that if she was becoming increasingly dependent he could not manage at home and she needed to go into 24 hour care • Deprivation of liberty vs maintaining safety of patient

23. Mrs K • Efforts made to maximise communication – lightwriter • Independent advocates provided by family support team for both patient and husband • Antibiotics switched but Mrs K continued to spike temperatures • Discussion with family that Mrs K was less well • Husband and son came to visit at the hospice, decision made not for IV antibiotics or transfer to hospital • Mrs K passed away peacefully in the presence of her husband and daughter

24. Challenges for the GP • Insidious onset • Lack of information • No cure and minimal effective treatment • Progressive nature of the condition • Ethical issues surrounding artificial nutrition and assisted ventilation • Communication difficulties • Effective palliation • Support for carers

25. http://www.mndassociation.org/for-professionals/for-gps

26. Patient Perspective When I wake each morning I decide … This can be a good day or a bad day – my choice. I can be happy or sad – my choice. I can complain or I can cope – my choice. Life can be a chore or a challenge – my choice. I can take from life or give to life – my choice. If all things are possible, How I deal with those possibilities is – my choice. Steve Shackel, diagnosed with MND