Neuromuscular diseases. Judit Boczán MD, PhD
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1 Neuromuscular diseases Judit Boczán MD, PhD
2 Neuromuscular diseases - Motoneuron (motoneuron diseases) - Spinal roots (pl. disc herniation) - Plexus (brachial, lumbosacral) - Peripheral nerves (mono- and polyneuropathies) - Neuromuscular junction (eg. myasthenia gravis) - Skeletal muscle (myositis, myopathies, muscular dystrophies)
3 Neuromuscular diseases - Motoneuron (motoneuron diseases) - Spinal roots (pl. disc herniation) - Plexus (brachial, lumbosacral) - Peripheral nerves (mono- and polyneuropathies) - Neuromuscular junction (myasthenia gravis) - Skeletal muscle (myositis, myopathies, muscular dystrophies)
4 Anamnesis - Complaints Motor system (YES) weakness fatigue clumsyness Involuntary movements of muscle, cramps Sensory system (NO) numbness pain hypesthesia dysequilibrium
5 Symptoms Motor system Trophism: atrophy Tone: hypotonia Strenght: paresis motor on sign: fasciculation, myokymia Reflexes Decreased deep tendon reflexes No pyramidal signs
6 Examinations Electroneurography (ENG) - Functional examination method of peripheral nerves - Motor, sensory - Axonal? Demyelinisation? - Diagnosis, follow up.. Conduction block
7 Examination Electromyography (EMG) - Differentiation between myogen and neurogen processes - Concentric needle electrode - Activity in relaxed muscle? (no, fibrillation, positive sharp wave, fasciculation) - Voluntary contraction: motor unit potentials (amplitude, duration) normal myopathy neuropathy
8 Neuromuscular diseases - Motoneuron diseases - Diseases of the neuromuscular junction - Skeletal muscle diseases
9 Neuromuscular diseases - Motoneuron diseases - Diseases of the neuromuscular junction - Skeletal muscle diseases
10 Motoneuron diseases (MND) - Upper motoneuron - Upper + Lower motoneuron (ALS) - Lower motoneuron (SMA, SBMA)
11 Motoneuron diseases (MND) - Upper motoneuron - Upper + Lower motoneuron (ALS) - Lower motoneuron (SMA, SBMA)
12 Upper motoneuron diseases - Hereditary spastic paraparesis (HSP) - Lesion of the pyramidal tract - Spasticity (mainly lower extremities) - No or minimal atrophy - Increased tendon reflexes, pyramidal signs - Spastic gait - AD, AR - Diff. DG: other myelopathies (inflammatory, compression, hypovitaminosis B12..)
13 Motoneuron diseases (MND) - Upper motoneuron - Upper + Lower motoneuron (ALS) - Lower motoneuron (SMA, SBMA)
14 Amyotrophic lateralsclerosis (ALS) : Jean-Martin Charcot - Progressive loss of UMN and LMN - Lethal within 3-10 years - Incidence: 1-3/ , Prevalence: 4-10/ Male:Female ratio: 1,5:1 - Onset: majority of cases: years of age - Hereditary: 10% (SOD1 15%, c9orf72.)
15 ALS (Lou Gehrig s disease) Lou Gehrig ( ) - New York Yankees - Onset: Died: 1941 (37 year old) Stephen W. Hawking ( ) Big Bang, black holes Lucas-professor of Cambridge University (like Isaac Newton in the 17 th century)
16 ALS - symptoms - Upper motoneuron (pyramidal tract): spasticity, increased tendon reflexes, pyramidal signs - Lower motoneuron: hypotonic muscles, pronounced muscle atrophy, fasciculation, paresis, bulbar signs (tongue atrophy, fasciculation, dysarthria, dysphagia)
17 Hirano - 4 negative criteria NO: - Sensory signs - Eye movement problems - Vegetative signs (bladder and bowel) - Taint for decubitus
18 Diagnosis - ENG: motor axonal neuropathy (sensory - spared) - EMG: denervation signs at rest (fibrillation, fasciculation), neuropathic potentials, signs of reinnervation - Magnetic evoked potentials (MEP): dysfunction of the pyramidal tract - Brain and cervical MR: negative, BUT precentral gyrus atrophy is possible - Muscle biopsy
19 Subgroups, incidence, prognosis - Primary Lateral Sclerosis (PLS): 5%, UMN + later LMN signs, mean survival: 20 years - Amyotrophic Lateral Sclerosis (ALS): 65-70%, UMN+LMN signs, mean survival : 3-4 years - Progressive Muscular Atrophy (PMA): 10%, LMN, later UMN signs, mean survival: 5 years - Primary Bulbar Paresis (PBP): 12-20%, bulbar signs, signs, mean survival: 2 years
20 Therapy - Incurable - Riluzole: slowing progression, increases survival with 3-6 months - Goal: improve the quality of life of the patient and his family - PhysicoTH, exercises, medical aids (eg. handrail, wheelchair..) - Muscle relaxants for decreasing spasticity - Improve communication (eg. camera mouse ) - Dysphagia: pulping, condensation of fluids, percutaneous gastrostomy - Dyspnea: noninvasive ventilation, home ventilation - Psychotherapy (patients, family, alternative Th-s..)
21 Motoneuron diseases (MND) - Upper motoneuron - Upper + Lower motoneuron (ALS) - Lower motoneuron (SMA, SBMA)
22 Spinal muscular atrophies (SMA) Incidence: 1: / birth 2 nd most frequent AR disease in childhood Survival motor neuron 1 - SMN1 gene 7-8. exon del (5q) carrier fr: 2-3% - SMA0: congenital, reduced movements, respiratory insufficiency, death: 1 st month - SMA I (Werdnig-Hoffmann) onset < 6 m, hypotonia, prox. dominant. paresis, swallowing and respiratory insuff. Death: 1-2 years. - SMA II.: onset: 6 months 2 years - SMA III (Kugelberg-Welander): onset: years, lower extremity dominant, proximal, symmetric weakness and atrophy, cramps, death: adult - SMA IV: onset: adult, norm. lifespan Dg.: EMG, muscle biopsy, genetic test
23 Spinal muscular atrophies (SMA) Therapy: Spinraza (nusinersen) - Antisense oligonucleotide - Intrathecal injection - FDA approval: SMA is caused by loss-of-function mutations in the SMN1 gene which codes for survival motor neuron (SMN) protein. - Patients survive owing to low amounts of the SMN protein produced from the SMN2 gene. - Nusinersen modulates alternate splicing of the SMN2 gene, functionally converting it into SMN1 gene, thus increasing the level of SMN protein in the CNS
24 Kennedy s disease (SBMA) SBMA: spino-bulbar muscular atrophy Prevalence: 1: Androgen receptor (X chromosome) CAG repeat expansion - Onset: years, progression: decades - cramps, atrophy (face, tongue, extremities), paresis, fasciculation - Bulbar muscles (dysarthria, dysphagia) - Gynecomastia, testes atrophy, infertility - CK increased - ENG: sensory-motor PP - EMG: denervation, neurogen - Lifespan is close to normal
25 Neuromuscular diseases - Motoneuron diseases - Diseases of the neuromuscular junction - Skeletal muscle diseases
26 Sanders, Massey: Handbook of Clinical Neurology, Vol. 91 Myasthenia gravis - Autoimmun appr. 99%, congenital app. 1% - Prevalence: 2-10/ Rare disease - Increasing incidence in elderly (lifespan, better DG workup)
27 Autoantigens in MG No. Antigén Prevalencia MGban 1 nachr Kb. 85% 2 MUSK 4-70% 3 Lrp4? 1-7% 4 Titin 30-75% 5 Ryr 50-90% 6 DHPR 37% 7 TRPC3 36% 8 Tropomyosin 32% Gomez et al., Autoimmunity, 2010; 43(5 6): NMJ: 3x safety factor (EPP generates AP) Others: pl. agrin, cortactin, actomyosin, rapsyn, AChE
28 Pathophysiológy anti-achr antibody (IgG1 és 3, C fixing) No of AChR Ampl. of EPP AP is late or missing - Desorganisation of the postsynaptic membrane - Granulocyta infiltration in the NMJ - Synaptic boutons detach from the sarcolemma - The postsynaptic membrane will be simpler (disappearance of the T-tubule system)
29 Complaints, symptoms Fatigue, skeletal muscle weakness increases with physical exercise, and during the day According to the muscles affected: Ocular - ptosis, diplopia Bulbar masticatory muscles, muscles of facial expression (facies myasthenica), dysarthria, dysphonia, dysphagia Generalized Proximal muscles, neck, respiratory muscles!!!
30 Frequent co-morbidities Thyroid gland diseases Persistent thymus, thymoma (chest CT!)
31 DIAGNOSIS: Edrophonium-chlorid test - Acetylcholine-esterase inhibitor - max. 10 mg iv Positive: - Ocular MG: 60-95% - Generalized MG: 72-95% - BUT: aspecific positive reaction might occur in eg. motoneuron disease, brainstem lesion, other myopathies - Mild symptoms: negative - Side effect: salivation, nausea, fasciculation, sweating, (hypotension, bradycardia)
32 DIAGNOSIS: Ice cube test - 2 minutes chilling with and ice cube ptosis decreases - might be positive in edrophonium negative cases - meta analysis of 6 studies: Sensitivity: 89% Specificity: 100%
33 DIAGNOSIS: Antibody test - Ab titer does NOT correlate with severity BUT: - AB positivity = Myasthenia - Diagnostic kits on the market (AChR, MUSK) - Cell based assays for Lrp4
34 DIAGNOSIS: Repetitive stimulation (3 Hz) More sensitive at proximal muscles! - Axillary nerve deltoid - Accessory nerve trapezius - Ulnar hypothenar Positive: - Ocular MG: 50% - Generalized MG: 75% - anti-musk MG: 57%
35 DIAGNOSIS: single-fiber EMG (SF-EMG) - Most senstivive electrophysiologic test - Often + in a non-paretic muscle - Generalized and ocular MG > 95% sensitivity BUT: ALS, polymyositis: false +
36 CHEST CT - Persistent thymus, thymoma, thymic carcinoma
37 Therapy Inhibition of Ach esterase - quick effect, short T1/2 - pyridostigmine (Mestinon, 0-6x60 mg ), ambenonium chlorid (Mytelase 10mg) - Fit the dose to the patient s actual need - Side effects: muscarinergic: salivation, diarrhoea, vomitus, increased bronchial secretion nicotinergic: muscle twitches, cramps - If symptoms worsen with AChE inhibition: immunosuppression
38 Thymectomy - Persistent thymus, generatlized MG, AChR AT +: up to years of age - Thymoma should be removed due to an oncologic indication - Operation techniques: transsternal transcervical and infraaxillar VAT Robot-assisted operation - In the first year of myasthenia
39 Steroid - Progression despite of high dose of AChE inhibitor - start: 16 mg metilprednizolon per os - increase with 4 mgs every second day - max. 1 mg/kg (! DM, side effects), hold for 1-3 months - taper down with 4 mgs every second week, then stop - Check: RR, glucose, GI complaints, edema!!!!
40 Chronic immunosuppression - azathioprin (Imuran): effective steroid lowering drug in MG - 2,5 mg/kg, pregnancy is NOT a contraindication! - Blood cell count, liver function control! - Increases the incidence of non-melanoma skin cancers - Skin protection against UV light is recommended
41 Myasthenic crisis - Respiratory failure requiring intubation, ventilation - Occurence in 15-20% of cases - Provoked by: infection, changes in medication (eg. steroid withdrawal or initiation with high dose; other drugs) - Mortality 4-6% - Treatment: plasma exchange (PLEX) IVIG
42 Neonatal myasthenia - Antibody penetrates the placenta - Respiratory failure and severe dysphagia in newborns - Delivery only at wards with PIC facility! - Temporal mechanical ventilation, nasogastric feeding if necessary - Spontaneous remission
43 Drugs worsening myasthenia Replacement Antibiotics Aminoglycosids, tetracyclin Polymyxin, penicillin (high dose) Anticonvulsants Phenytoin, barbiturate Carbamazepin Cardio- vascular drugs beta blockers, antiarrhythmic drugs, ganglion-inhibitors Cephalosporins, ampicillin Erythromycin, co-trimoxazol Nitrofurantoin digitalis, reserpin Antirheumatics penicillamin Acetylsalicylic acid, phenylbutazon Indomethacin Antiparkinson drugs amantadin L-DOPA Psychiátric drugs Narcotics and musclerelaxants Others Tranquillants, neuroleptics, Lithium Ketamin, aether, Pancuronium, d-tubocurarin corticosteroids, ACTH oral contraceptives thyroid hormones laxans (Mg!) atosil Benzodiazepines (low dose, with care) Halothan, fentanyl N 2 O, suxamethonium
44 Lambert-Eaton myasthenic syndrome - frequently associates with SCLC - AB against the praesynaptic Ca 2+ channel - Repetitive stimulation: differentiates from MG!! 3 Hz: decrement post-activation: amplitude increment 30 Hz stimulation (ulnar nerve): minimum 100% increment
45 Neuromuscular diseases - Motoneuron diseases - Diseases of the neuromuscular junction - Skeletal muscle diseases
46 Skeletal muscle diseases - Myositis - Myopathies - Muscular dystrophies - Ion channel diseases
47 Complaints - Symptoms: - Muscle weakness - Muscle pain - Muscle atrophy - Skin-, joint.. symptoms Subgroups: - Polymyositis (prox.) - Dermatomyositis (prox.) - IBM (distal, BUT: can be hereditary, too) - Associated with other connective tissue disease - Infective
48 Diagnosis: - laboratory: CK, LDH, GOT, GPT, ANA, myositis spec. AB-s - EMG (myogenic potentials, fibrillation - acute) - muscle MRI - biopsy (histochem, IH), myogenic, lymphocytes, MHC expression.. Therapy: steroid, chr. Immunosuppression, IVIG, PLEX
49 Skeletal muscle diseases - Myositis - Myopathies - Muscular dystrophies - Ion channel diseases
50 Weakness of proximal muscles (no sensory!) Causes: - Metabolic (mitochondrial, fat- or carbohydrate) inherited - Endocrine (thyroid gland, parathyroid gland..) - Toxic - Drug induced (statins!) - Critical illness myopathy Diagnosis: - laboratory: t és ica, Mg, phosphate, CK, LDH, GOT, GPT, thyroid function, calcitonin, parathormon.., - EMG (myogen potentials) - biopsy (histochem, IH), myogenic/neurogenic?, deposits?
51 Skeletal muscle diseases - Myositis - Myopathies - Muscular dystrophies - Ion channel diseases
52 Muscular dystrophies - Duchenne/Becker (DMD-BMD, dystrophin) - Limb-girdle (LGMD) - Facio-scapulo-humeral (FSH) - Myotonic dystrophy
53 Duchenne dystrophy - XR, dystrophin gene - Prevalencie: kb. 1 : 7250, 5-24 year old boys - Onset: 2-5 years - Progressive weakness of proximal muscles, Gowers sign - Lumbar hyperodosis, wingigng of the scapula, pseudohypertrophy of the calf, belly sticks out, Achilles contract., scoliosis, CK extremely elevated - Loss of ambulation: 9-13 year - Cardiomyopathy - Respiratory failure - Death: year Therapy: steroid, symptomatic New: CRISPR/Cas9 genetherapy in certain cases
54 Limb girdle muscular dystrophy
55 Facio-scapulo-humeral muscular dystrophy (FSHD) - AD: in 70-90% of cases, migt be sporadic, 4q35.2 del - Prevalence: 1 : Onset: 3 rd decade - Facial, periscapular muscles, biceps, leg dorsiflexion, later thigh, linear progression up to year (DG FROM THE DOOR) - Mental retardation, cardiomyopathy might occure - CK: U/l (normal in 25% ) - Wheelchair: only in 20 % - Frequently normal lifespan (spared bulbar and respiratory muscles) - 20% of pts have no symptoms!! Therapy: symptomatic
56 Myotonc dystrophy - AD, myotonin protein kinase (DMPK, CTG triplet expansion) - Prevalence: 13.5 / birth - Frontal baldness - Cataracta - Difficulty in muscle relaxation, paresis - Myopathic face - Cardiomyopathy - Therapy: mexiletin
57 THM Rare diseases: - many rarities - a lot in total - it s 100% for that patient Phenotype: from mild to severe Push the diagnostic workup as much as possible Gene therapy is around the corner Prenatal diagnosis in severe cases Focus on quality of life
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