Motor Neurone Disease Lecture 2024 PDF

Motor Neurone Disease Trish O’ Sullivan November 4th, 2024 Learning Objectives Gain an understanding of the types of MND and how they present Understand how MND is diagnosed Critically apply relevant neuroanatomy and associated clinical features of MND Become confident in th...

Motor Neurone Disease Trish O’ Sullivan November 4th, 2024 Learning Objectives Gain an understanding of the types of MND and how they present Understand how MND is diagnosed Critically apply relevant neuroanatomy and associated clinical features of MND Become confident in the Assessment of a patient with MND Understand the Respiratory measures and adjuncts that can be used in MND Critically apply evidence-based interventions throughout Understand the critical role of the MND in the management of the patient with MND BUT FIRST… EMMAS STORY…. But First…Emma’s Story Introduction “Motor Neuron Disease (MND) is a UMN arise from where? rare but fatal syndrome LMN arise from where? characterised by signs and No known cure symptoms of degeneration of upper motor neurons (UMN) and lower Life expectancy is 2-3 years from motor neurons (LMN) in the diagnosis cerebral cortex, brainstem and Rare (1.0-2.5 cases per 100,000) spinal cord, leading to progressive More common in males weakness of bulbar, limb, thoracic, abdominal and respiratory 40-65 years muscles”. Sporadic or Familial (5-10%) MND (Irish Guidelines for the https://www.youtube.com/watch?v Physiotherapy Management of MND, =SVYZAg9nxhk 2014) Anatomy and Pathophysiology Area of active research Cellular mechanisms contributing UMN- Betz Cells (Targeted first) to degeneration post disease onset: LMN- in Ventral horn of the SC and Brain Stem Motor Neurones suppling the Protein extraocular muscles and those in Misfolding the sacral spinal cord innervating the pelvic floor muscles tend to be spared- explains the preservation of eye Defects in Other cellular muscles and sphincter control RNA mechanisms processing Causes? Genetic – mutations in the SOD1 gene (found in 46% of patients with fMND. (Brown & Al-Chalabi, 2017) ? Geographic- are documented areas of high incidence foci- Japan, Guam Environmental- little evidence  History Diagnosis Heterogenous syndrome No one single Blood Test Clinical Examination investigation specific to MND Diagnosed based on what? Electro- Neuro- diagnostic imaging Tests Needs to be Timely Red flag diagnosis tool for GP’s. Speed up the time for quick diagnosis Diagnosis Revised El Escorial Research Diagnostic Criteria for ALS Types of MND ALS –Is it inherited or sporadic? Where does it start? PLS PMA Clinical Presentation Muscle weakness is cardinal sign Truncal weakness Hyper-reflexia Muscle fasiculations 20% bulbar onset- difficulty moving Absence of sensory symptoms the tongue, lips or close the mouth. https://www.youtube.com/watch?v Difficulty chewing and swallowing =9Q0SfKfIcYc Cervical and thoracic extensor muscle weakness- difficulty holding Compensatory strategies? the head up at work/on computer/reading/writing UMN Signs V’s LMN Signs Cognitive decline and FTD- ongoing research (15% of patients) Clinical Presentation Sir Frederick Walker Motts 19 th Century Case Report History- inescapably MND Differential Diagnosis- “Ruling out” other diseases and “ruling in ALS” MRI usually normal Brain Tumor Not Disc Prolapse corresponding to a nerve root Muscular Dystrophy Assessment Classified as URGENT on any wait Posture list Gait Multi-factorial Power MDT- from beginning ROM Holistic Bulbar symptoms Respiratory Assessment- what should this include? OM Measures? (Grip strength, 6MWT) MND Passport Useful to keep both Physio’s up to date Physiotherapy Management Maintaining Respiratory Pain Management Mobility and Symptom Treat as any MSK Function (Early Managment patient stage) Shoulder pain Cough and airway Positioning- link in with Resistance and aerobic secretion management Monitor for signs of who? training Spasticity Mx Respiratory Falls Prevention compromise Gait aids Early Stage Definition Goal setting- short term goals Maintain and optimise mobility and function ( Irish MND Guidelines, 2014) MDT and family involvement Hope  In-depth gait assessment One session at a time- changes ++ Maintaining Mobility and Function Aids? Upper and lower limb strength training- context specific – performed at intensities to avoid fatigue Supported Treadmill Training (Sanjack et al 2010) Maximise function as opposed to increasing strength- how? Address muscle length and spasticity- stretching and ROM (AROM/PROM) (Irish MND Physiotherapy Guidelines 2014) Functional and STG work best Lack of RCT’s in this patient population (Dal Bell-Haas, 2007, 2018) Exercise and ALS Dal Bello-Haas Grade 3 or RCT’s Patient tailored (2013,1018) above Low to Watch Aerobic v’s ROM and moderate load respiratory Resisted Stretching at sub- status maximal levels Between 50- 60% of HRR RCT’s So… what does all of this mean? Endurance training: bike and incline treadmill ROM and stretching Adjuncts Address shoulder brace pain (MSK activator approach) poles Sources of Pain in an MND patient? Pain Management Falls Contractures MSK Related Pressure Sores Constipation Shoulder Pain (26%)  Introduction of compensatory interventions: collar, walking aid. Middle Stages Link with OT: rise/recline chair, home assessment, manual handling risk assessment. Pain Contractures Falls References Kang, S.W., Bach, J.R. (2000) Maximum insufflation capacity. CHEST, 11, 61-65. Dal Bello-Haas, D.V., Florence, J.M., Kloos, A.D., Scheirbecker, J., Lopate, G., Hayes, S.M., Pioro, E.P., Mitsumoto, H. (2007) A randomized controlled trial of resistance exercise in individuals with ALS. Neurology, 68, 2003-2007. Dal Bello-Haas, V (2018) Physical Therapy for individuals with Amyotrophic lateral sclerosis: current insights. 8 pp.45-54. Sanjak, M., Bravver, E., Bockenek, W.L., Norton, J., Brooks, B.J. (2010) Supported treadmill ambulation for amyotrophic lateral sclerosis: A pilot study. Archive of Physical and Medical Rehabilitation, 91, 1920-1929. Guidelines for the Physiotherapy Management of MND (Ireland) 2014 Nicholson K, Murphy A, Mcdonnell E, et al. Improving symptom management for people with amyotrophic lateral sclerosis. MuscleNerve. 2017;57(1):20–24.