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Approach to myopathy
- 1. Approach to myopathy DR BHAVINJ PATEL SR NEUROLOGY GMC KOTA
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- 3. Types of musclefiber
- 4. Introduction MYOPATHY means primaryskeletal muscle dysfunction.
- 5. Evaluation Symptoms of patient:Positive or Negative ? Temporal evolution:- onset age,episodic/constant, progressive/static, acute/chronic Distribution of weakness Associated systemic symptoms or signs(cardiac, respiratory, hepatomegaly, skin changes) Family history Precipitating factors:-episodic weakness (drug, fever, cold, excersice, high carbohydrate diet)
- 6. Etiology Acquired Endocrine Drug induced Toxic Inflammatory/immune Associated withsystemic illness Critical illness myopathy Hereditary Channelopathies Congenital Mitochondrial Metabolic Muscular dystrophy Myotonia
- 7. Symptoms associated withmyopathies Negative symptoms Fatigue Exercise intolerance Weakness Atrophy Positive symptoms Cramp Contracture Hypertrophy Myalgia Stiffness
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- 11. Temporal evolution: episodicor constant weakness? Causes of episodic weakness:- Hypo and hyper kalemic periodic paralysis Anderson- tawil syndrome Secondary PP Metabolic myopathy (glycolytic enzyme defect)
- 12. Temporal evolution: acuteor chronic? Acute onset myopathy Viral myosistis Polymyositis and dermatomyositis channelopathies
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- 15. Pattern of weakness:-proximal Most dystrophies(dystrophinopathies, limb girdle, myotonic dystrophy 2, rare FSHD) Congenital myopathies( nemaline, central core) Metabolic myopathies(glycogen and lipid storage) Mitochondroal myopathy PM, DM Toxic myopathy Endocrine myopathy
- 16. Pattern of weakness:-Distal Myotonic dystrophy Distal myopathies:-welander, marksberry, udd, nonaka, miyoshi, laing Inclusion body myosistis Centronuclear myopathy Myofibrillar myopathy Debrancher deficiency
- 17. Pattern of weakness:-scapuloperoneal Proximal arm and distal leg:- Facioscapulohumeral dystrophy Scapuloperoneal dystrophy Emery dreifuss humeroperoneal dystrophy LGMD 2A( calpin), 2C-F(sarcoglycan) 2I(KFRP) Nemaline and central core myopathy Acid maltase deficiency Distal arm and proximal leg:- IBM Myotonic dystrophy
- 18. Pattern of weakness:-axial Cervico brachial myositis hIBM FSHD MD 2 Hyperparathyroidism/vit d deficiency Metabolic ( late onset pompe and mc ardle)
- 19. Pattern of weakness:-Ptosis Ptosis without opthalmoparesis Myotonic dystrophy Nemaline myopathy Central core myopathy Myofibrillar myopathy Ptosis with opthalmoparesis OPMD Mitochondrial myopathy Centronuclear myopathy NMJ disorder
- 20. Myopathies with neckextensor weakness Hyperparatyroidism Myotonic dystrophy FSHD IBM, polymyositis Carnitine deficiency Isolated neck extensor myopathy
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- 22. Stiffness: decrease abilityto relax Improve with exercise Myotonia: Na or Ca channelopathy Worsen with exercise/ cold Paramyotonia Brody disease With fixed weakness Myotonic dystrophy Becker disease (AR Cl channelopathy Other Malignant hyperthermia Neuromyotonia Stiffperson syndrome
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- 24. Other symptoms Fatigue NMJ Glycolysis Lipid abnormality Mitochondrial myopathy Chronicmyopathy Calf Hypertrophy Calf Pseudohypertrophy Atrophy LGMD 2c-f LGMD 2i LGMD 2G miyoshi DMD BMD Humeral muscle—FSHD Gastrocnimius– dysferlinopathies Quadriceps and forearm flexor- IBM
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- 26. Examination Muscle appearance –wasting ,atrophy (neurogenic) ABSENT fasciculations (+Denervation) Tenderness on palpation Tone –normal ,decreased in advanced cases. Distribution of weakness –proximal,distal (distal myopathies) Tendon reflexes – normal /hypoactive in adv.cases Babinski sign negative SENSORY system is normal. GAIT – lordosis on stance,increased on toe walking Waddling gait – b/l pelvic girdle weakness Genu recurvatum –quadriceps weakness
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- 29. Creatinine kinase Most usefullab investigation for myopathy Degree of elevation is helpful May be normal in:- Slowly progressive form Profound wasting Steroid use hyperthyroidism
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- 31. Other laboratory test Electrolytesincluding calcium and magnesium S.myoglobin level Urinanalysis:- myoglobinuria ESR TFT ANA
- 32. EMG Indication:- To confirm musclelocalization and rule out AHC, neuropathy Guide for muscle biopsy Common pattern:- Brief duration small amplitude MUAP with early recruitment
- 33. Muscle biopsy Should notbe taken from muscle with grade 3 or less power Avoid biopsy from EMG needle site insertion Punch biopsy is preferred over open biopsy Common site:- biceps, deltoid, vastus lateralis Emergence of genetics has reduce need of biopsy
- 34. Muscle biopsy Common pattern:- Centralnuclei, both small and large hypertrophic round fibers, split fibers, and degenerating and regenerating fibers Inflammatory myopathy:- Presence of mononuclear inflammatory cells in the endomysial and perimysial connective tissue between fibers and occasionally around blood vessels Dermatomyositis, atrophy of fibers located on the periphery of a muscle fascicle, perifascicular atrophy, is a common finding Chronic myopathies frequently show evidence of increased connective tissue and fat.
- 35. Stain used inmyopathy
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- 39. Diamond sign :-dysferlinopathy
- 40. Calf head sign:-Miyoshi myopathy
- 41. Fish mouth:- cong.Myotonic dystrophy
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- 43. Identify Myopathy? Gottron papules Shawlsign V sign Heliotrope rash Mechanics hand Dermatomyositis
- 44. Case scenario 68 yrold male, 5 year history of difficulty walking down stairs and weak right hand grip…. After 2 yr of onset pt evaluated…CPK:- 500, muscle biopsy(quadriceps) s/o polymyositis… treated with immunosuppressant steroid and azathioprne… still progressive illness….at present weakness in right finger and wrist flexion and left finger flexion with bilateral asymmetric knee extension weakness…next step???? A) IVIG B) Rituximab C) look for systemic illness D) Muscle biopsy
- 45. MCQ Risk of myopathywith statins is potentiated by which of the following factors? A. Alcoholism B. Concomitant therapy with fibrates C. Hyperthyroidism D. Younger age E. Renal disease A B E
- 46. MCQ Creatine kinase A. Levelsshould be routinely monitored for patients receiving statins B. Is less specific than aldolase for diagnosis of myopathy C. Can be elevated in Afro–Caribbean men D. Can lead to renal failure, if levels are grossly elevated E. Can be normal in patients with corticosteroid-induced myopathy C D E
- 47. MCQ Which of thefollowing clinical features are not suggestive of proximal myopathy? A. Loss of deep tendon reflexes B. Episodic weakness C. Myalgia D. Fasciculations E. Dysphagia A D
- 48. MCQ Which of thefollowing statements regarding management of proximal myopathy are true? A. Double-blind, randomised controlled trials have demonstrated efficacy of corticosteroids for inflammatory myopathy B. Statin should be discontinued when creatine kinase levels start to rise C. Hypothyroid myopathy responds promptly to thyroxine replacement therapy D. Randomised controlled trials have demonstrated that physiotherapy is helpful for patients with inflammatory myopathy E. Southeast Asian patients with dermatomyositis should always be referred to an otolaryngologist to screen for nasopharyngeal carcinoma D E
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- 50. myalgia fibromyalgia,myofascial syndrome,Polymyalgia rheumatic, temporal arteritis Muscle weakness Nomuscle weakness Local trauma Cramp + Muscle contracture + Stiffnaess + NMJ BMD Glycolytic EMD Stiffperson syn neuromyotonia
- 51. Endocrine myopathy Muscle fatigueis more common than true weakness. Serum CK LEVELS are normal. Muscle histology –atrophy rather than destruction. All respond to treatment
- 52. LIPID LOWERING AGENTS FIBRATES ,HMGCOA ,NIACIN,EZETIMIBE • MYALGIA,MUSCLE TENDERNESS. • MUSCLE PAIN RELATED TO EXERCISE • RHABDOMYOLYSIS,MYOGLOBINURIA • ELEVTED CK LEVELS –TOXICITY – 3 TIMES – STOP THE DRUG • MYOPATHIC EMG-MUSCLE NECROSIS ON BIOPSY • IMPROVEMENT –SEVERAL WEEKS • NO RESPONSE – IMMUNE MEDIATED MYOPATHY GLUCOCORTICOIDS GLUCOCORTICOID MYOPATHIES HIGH DOSE IV GLUCOCORTICOIDS • >30 MG/DAY USE OF PREDNISOLONE • FLUORINATED GLUCOCORTICOIDS -TRIAMCINOLONE • SERUM CK NORMAL IN CHRONIC CASES • LOSS OF MYOSIN IN ACUTE ONSET. • RECOVERY SLOW IN ACUTE QUADRIPLEGIC MYOPATHY D – PENICILLAMINE DRUG RELATED INFLAMMATORY OR ANTIBODY MEDIATED • WILSON’S,SCLERODERMA,RA,PBC • DRUG INDUCED POLYMYOSITIS -1% • MYASTHENIA GRAVIS – 7% • IMPROVE ON DRUG WITHDRAWAL
- 53. Central core disease Breech presentation Legs>arms CHD,scoliosis,pescavus Non progressive Suspectible to malignant hyperthermia CPK NORMAL CORES ON BIOPSY DEVOID OF OXIDATIVE ENZYMES NEMALINE MYOPATHY Rods /threads in muscle fibers type 1 fibers long narrow facies,high arched palate,open mouth appearance pectus excavatum,pes cavus,kyphoscoliosis five genes –thin filament proteins CENTRONUCLEAR MYOPATHY marfanoid habitus progressive external ophthalomplegia,eom weakness Myotubularin ARR –childhood no specific treatment