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NMD.ppt
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- 2. DISORDERS OF THEMOTOR UNIT • Peripheral nerve disorders • Motor neuron disease • Neuromuscular junction disease • Muscle disease
- 3. PERIPHERAL NERVE DISORDERS •Mononeuropathy • Pattern of weakness and sensory loss conforms to the distribution of a single nerve • Carpal tunnel syndrome • Peroneal palsy at the fibular head • Mononeuritis multiplex • Multiple nerves affected in a random pattern • Acute onset, frequently painful • Diabetes mellitus, vasculitis • Polyneuropathy (peripheral neuropathy) • Distal, symmetric
- 4. POLYNEUROPATHIES • Can affectdifferent types of fibers • Autonomic • Motor • Sensory • Large well myelinated • Small poorly myelinated or unmyelinated
- 5. SYMPTOMS OF APOLYNEUROPATHY • Sensory symptoms • Start in feet, move proximally • Hand sxs appear when LE sxs up to knees • Positive • Pins and needles • Tingling • Burning • Negative • Numbness • Deadness • “Like I’m walking with thick socks on”
- 6. EXAMS OF PERIPHERALNEUROPATHY Sensory impairment akroparesthesias or tactile hypestesias glove or sock distribution Vibration disturbances pallhypestesia distally (tuning fork C 128 Hz)
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- 8. CLINICAL FEATURES OFPOLYNEUROPATIES • Weaknes of LL • Atrophies of distal muscles • Deformities pes cavus • Walk on heels • Normal muscles strenght at proximal muscles
- 9. Diabetic feet and ulcerations Amputation CR 8000/y Germany 30 000/y
- 10. FOOT DEFORMITY INHEREDITARY NEUROPATHY (CMT DISEASE) • pes cavus
- 11. CLASSIFICATION OF POLYNEUROPATHIES •By types of fibers involved • Pure sensory • Sensory motor • Pure motor • Autonomic • By pathology • Demyelinating • Axonal • Mixed • By tempo • Acute • Subacute • Chronic
- 12. ACUTE POLYNEUROPATHIES • GuillainBarre Syndrome • Porphyria • Neuropathy, psychiatric disorder, unexplained GI complaints • Toxins • Glue sniffing (n-hexane) • Arsenic
- 13. GUILLAIN-BARRÉ SYNDROM G GuillainJA Barré A.Strohl Bulletin de Societe des Medicines Hopitals de Paris,1916;40:1462. Guillain Barré syndrome from 1927
- 14. GUILLAIN BARRE SYNDROME •Most common cause of rapidly progressive weakness • Demyelinating neuropathy • Ascending weakness which may include cranial neuropathies • Exam reveals symmetric weakness with areflexia and large fiber sensory loss • Bowel and bladder usually preserved
- 15. GUILLAIN BARRE SYNDROME, CONT •Respiratory failure can be precipitous • Other causes of morbidity and mortality • Autonomic instability • DVT • Infection • Immune mediated, may be post infectious • Treatment • Plasma exchange • Intravenous immunoglobulin
- 16. SUBACUTE POLYNEUROPATHIES • Vasculitis •Can be isolated to peripheral nerves or part of a more systemic process • Paraneoplastic • May be presenting symptom of the cancer • Chronic inflammatory demyelinating polyneuropathy • With or without a gammopathy • Toxins • Drug
- 17. CHRONIC POLYNEUROPATHIES • Metabolic •Diabetes mellitus • Chronic renal failure • Chronic liver failure • Thyroid disease • Nutritional • B12 deficiency • Infections • HIV • Leprosy • Inherited – Charcot Marie Tooth disease since 1886
- 18. EVALUATION OF A POLYNEUROPATHY •Lab work • Nerve conduction study/electromyography • Distinguishes between axonal and demyelinating • Helps ascertain severity • Nerve biopsy • Frequently non-diagnostic • Can establish the dx in certain disorders, such as vasculitis and amyloidosis
- 19. ELECTROMYOGRAPHY FUNCTIONAL DIAGNOSTIC METHOD Conductionstudies Needle EMG Test of NM transmision
- 20. Conduction study ofperoneal n. Conduction study of sural n.
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- 24. DISORDERS OF THEMOTOR UNIT • Peripheral nerve disorders • Motor neuron disease • Neuromuscular junction disease • Muscle disease
- 25. MOTOR NEURON DISEASE •Diseases that can involve Betz cells of the motor cortex, the lower CN motor nuclei, the CST, and/or the anterior horn cells • Amyotrophic Lateral Sclerosis (ALS) – 80% • Progressive bulbar palsy – 10% • Progressive muscular atrophy, spinal muscular atrophy – 8% • Primary lateral sclerosis – 2%
- 26. Dion PA etal.Genetics of motor neuron disorders:new insight into patogenic mechanism.Nature Genetics 2009,10:769-782.
- 27. EPIDEMIOLOGY OF ALS ALS(Lou Gehrig´s disease) Prevalence - 4-6 : 100 000 Incidence - 0.5-3 : 100 000 90-95% sporadic forms of ALS (SALS) • No family history 5-10% familial forms of ALS (FALS)
- 28. CLASSICAL ALS First symptoms: limbs 75% bulbar sy 25% Upper limbs - 41% Lower limbs - 34%
- 29. ALS – CLINICALFEATURES • Loss of motor neurons in the cortex, brainstem and spinal cord • Mix of upper motor neuron and lower motor neuron findings • Weakness, atrophy, fasciculations • Slurred speech, difficulty swallowing, shortness of breath • Can start in any extremity or the bulbar musculature • Relentlessly progressive
- 30. ALS - PROGNOSIS •50 % dead in 3 years, 80% dead in 5 years, 5 - 10% live more than 10 years • Death usually from respiratory failure
- 31. DIAGNOSTIC ALGORHITM INALS • Clinical symptoms UMN + LMN • Electromyography • MRI brain + C spinal cord • Liquor evaluation (infection) • Sometimes paraneoplastic exams
- 32. How to slowdown Progression of ALS
- 36. TREATMENT OF ALS •Causative treatment is not available • Neuroprotective treatment riluzol - inhibitor of glutamate acid antioxidans – koenzym Q10 + vitamin E Experimental and clinical studies on more than 200 moleculs – IGF-1, minocycline, creatine ethyl ester, tamoxifen…
- 37. TREATMENT OF ALS •Symptomatic-paliative treatment – most important today 1. Mobility – -sticks, wheelchair, multifunctional bed 2. Nutrition – PEG + Nutrizone 3. Communication – tables, books,vocal communicators, PC 4. Anxiety and depresion – antideperesive drugs, psychotherapy 5. Respiration – non-invasive BiPAP or invasive 6. Whole family care
- 38. TREATMENT OF ALS •Stem cell therapy – clinical studies are ongoing, including University Hospital Motol (2012-2014 – 30 ALS pts) • 10 mio per kg • Systemic aplication i.v. • Intrathecal aplication • Combination i.v. + i.th. • Intraspinal aplication – L spinal cord, later C spinal cord