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Neuromuscular Disease s

Neuromuscular Disease s. Radim Mazanec , MD , Ph.D Department of Neurology. Disorders of the Motor Unit. Peripheral nerve disorders Motor neuron disease Neuromuscular junction disease Muscle disease. Peripheral Nerve Disorders. Mononeuropathy

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Neuromuscular Disease s

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  1. Neuromuscular Diseases Radim Mazanec, MD, Ph.D Department of Neurology

  2. Disorders of the Motor 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 affect different types of fibers • Autonomic • Motor • Sensory • Large well myelinated • Small poorly myelinated or unmyelinated

  5. Symptoms of a Polyneuropathy • 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 peripheral neuropathy Sensory impairment akroparesthesias or tactile hypestesiasgloveor sockdistribution Vibration disturbances pallhypestesiadistally (tuning fork C 128 Hz)

  7. Bed side tests tactile myotatic reflexes thermal vibration

  8. Clinical features of polyneuropaties • 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 8 000/y Germany 30 000/y

  10. Foot deformity in hereditary 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 • Guillain Barre Syndrome • Porphyria • Neuropathy, psychiatric disorder, unexplained GI complaints • Toxins • Glue sniffing (n-hexane) • Arsenic

  13. Guillain-Barré Syndrom G Guillain JA Barré A.Strohl Bulletin de Societe des Medicines Hopitals de Paris,1916;40:1462. Guillain Barré syndrom 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. Electromyographyfunctional diagnostic method Conduction studies Needle EMG Test of NM transmision

  20. Conduction study of sural n. Conduction study of peroneal n.

  21. Needle electromyography Concentric electrode

  22. Myogenic lesion 1 mV

  23. Chronic neurogenic lesion 8 mV

  24. Disorders of the Motor 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 et al.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 – clinical features • 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 in ALS • Clinical symptoms UMN + LMN • Electromyography • MRI brain + C spinal cord • Liquor evaluation (infection) • Sometimes paraneoplastic exams

  32. 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…

  33. Treatment of ALS • Symptomatic-paliative treatment – most important today • Mobility – -sticks, wheelchair, multifunctional bed • Nutrition – PEG + Nutrizone • Communication – tables, books,vocal communicators, PC • Anxiety and depresion – antideperesive drugs, psychotherapy • Respiration – non-invasive BiPAP or invasive • Whole family care

  34. 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 • Up to date – no EBM data, but in next year – several studies will be finished

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