Myopathies
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MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM HAVE A LOOK ..AND COMMENT..WITHOUT BIAS..
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Myopathies
- 5. INTRODUCTION MYOPATHY means primary skeletal muscle dysfunction. WASTING--- related to muscle MYALGIA– muscle pain FIBRILLATIONS - when muscle fibers lose contact with their innervating axon producing a spontaneous action potential, "fibrillation potential" that results in the muscle fiber's contraction. not visible under the skin and are detectable through needle electromyography (EMG) and ultrasound.-pathological FASCICULATIONS – visible spontaneuos contractions. SPASM/CRAMP – sudden PAINFUL involuntary contraction of muscle TONE – continuous and partial contraction of the muscles AT REST.resting muscle tension CLONUS –series of involuntary muscle contractions. MYOKYMIA – INVOLUNTARY ,groups of fasciculations –continuous undualtions of muscle.
- 7. Muscle appearance – wasting ,atrophy (neurogenic)
- 10. Tone –normal ,decreased in advanced cases.
- 11. Distribution of weakness –proximal,distal (distal myopathies)
- 13. Tendon reflexes – normal /hypoactive in adv.cases
- 14. Babinski sign negative
- 15. SENSORY system is normal.
- 16. GAIT – lordosis on stance,increased on toe walking
- 17. Waddling gait – b/l pelvic girdle weakness
- 19. APPROACH OF A PATIENT WITH INTERMITTENT WEAKNESS
- 20. Approach to a patient with PERSISTENT WEAKNESS
- 21. Based on other complaints
- 22. EMG –assess the function of type I fibersnormal in steroid,disuse atrophy
- 24. 2.CONGENITAL DISTAL MYOPATHIES
- 25. 3.DISORDERS OF MUSCLE MEMBRANE EXCITABILITY
- 26. 4.DRUG INDUCED/TOXIN INDUCED MYOPATHY
- 35. 20% cases – ANA,anticytoplasmic antigens
- 36. Anticytoplasmic – anti RNP(anti synthetase),
- 37. Anti jo 1 – 75% cases -80% assosciation with ILD.
- 38. Anti Jo 1 –ILD ,RP,non erosive arthritis,MHCDR3,DRw52.
- 39. DRB1 *0301,DQB1*0201 --- 75% PM,IBM
- 41. humoral immune mechanisms – microangiopathy.
- 42. Endomysial inflammatory infiltrates -B cells
- 43. auto AB -- complement pathway – C5b-9 membranolytic complex- release of proinflammatory cytokines – VCAM1,ICAM 1 on endothelial cells – migration of lymphoid cells to perimysial and endomysial spaces---necrosis,microinfarcts.
- 44. Remaining capillaries dilated due to ischemia
- 47. T cell mediated cytotoxicity
- 48. CD8 T cells,macrophages –invade and destroy MHC 1 muscle fibres(absent usually )
- 49. CD8/MHC 1 complex is characteristic of PM,IBM
- 50. These cells have perforin,granzyme granules –myonecrosis.
- 51. Antigen driven T cell response (auto AB in DM )
- 52. Antigens – endogenous (muscle),exogenous (viral)
- 54. Degenerative process in addition to autoimmune process.
- 55. B amyloid deposits within vacuolated muscle fibres,cyto ox –ve mitochondria.
- 59. Autoimmune myositis in coxsackie virus
- 60. Molecular mimicry of Anti RNAsynthetase and genomic RNA .
- 61. Best evidence of viral connection in PM,IBM –retroviruses.
- 62. HIV,HTLV 1 – PM,IBM
- 63. May be the initial manifestation or later of viral infection.
- 64. Retroviral antigens –endomyosial macrophages ,but not in muscle fibres.
- 65. AZT induced myopathy –mitochondrial – ragged red fibres.
- 67. Increasing difficulty with tasks – getting up from chair,climbingsteps,liftingobjects,combing hair.
- 68. Occular muscles are spared –even in advanced ,untreated cases –if involved ? Diagnosis
- 69. Head drop sign
- 70. dysphagia
- 71. Respiratory muscles involved in advanced cases.
- 72. Muscle wasting in untreated cases .
- 73. Sensation always normal .
- 75. Facial muscles are unaffected
- 77. As an isolated entity it is rare.
- 79. Blue purple discoloration on the upper eyelids with edema.(heliotrope rash)
- 80. A flat red rash on the face and upper trunk.
- 81. Erythema of the knuckles with a raised violaceous scaly eruption – gottron’s sign .
- 82. Erythematous rash on anterior chest – V sign.
- 83. Back and shoulders – shawl sign .
- 84. Dilated capillary loops at the base of the finger nails.
- 85. Mechanic’s hands –irregular dirty horizontal lnies on the palmar surface of fingers.
- 86. Muscle tenderness,myalgia –connective tissue disease.
- 87. Dermatomyositis sine myositis– muscle strength normal
- 90. Often misdiagnosed as PM
- 91. Suspected when doesnot respond to therapy.
- 92. Weakness and atrophy of distal muscles,footextensors,deep finger flexors –all cases –clue to early diagnosis.
- 93. Fine motor movements –affected early
- 94. Falling is common – quadriceps –buckling of knees.
- 95. DTR –depressed in presence of atrophy .
- 97. Slow and steady progression
- 99. Familial IBM
- 100. Hereditary IBM - heterogenous group of recessive,dominant inherited syndromes,non inflammatory
- 101. May spare the quadriceps –iranian JEWS
- 102. Chromosome 9p1
- 106. Systemic symptoms --- fever,malaise -- CTD.
- 107. Joint contractures –DM in children
- 108. Dysphagia ,GIabn – DM ,IBM
- 110. Pulmonary dysfunction – ILD,drug induced – t RNA ab – 10%
- 112. Arthralgias,deformingarthropathy – anti jo1 ab
- 114. Nasopharyngeal cancer in india
- 116. OVERLAP SYNDROMES – DM – SSc,PM – RA ,sjogren’s,SLE
- 119. UMN signs ,denervation signs on EMG
- 120. MUSCULAR DYSTROPHIES – progress over years ,rarely present >30 yrs.
- 121. RAPIDLY ADVANCING MUSCULAR dystrophy –fascioscapulohumeral,dysferlin –inflammatory cell infiltration early.
- 123. MYOPHOSPHORYLASE /ACID MALTASE deficiency
- 124. ENDOCRINE
- 127. GBS
- 128. Transverse myelitis
- 129. Poliomyelitis
- 133. Periodic paralysis
- 134. Chronic ALCOHOLICS
- 135. MYOFASCITIS – skin induration -eosinophilicmyofascitis
- 136. NECROTIZING MYOSITIS – CK is high.ILD,CMP,anti SRP.
- 137. DRUG INDUCED – d penicillamine
- 139. Parallels disease activity (active -50 fold)
- 140. Normal when CTD +PM,DM
- 142. 2.EMG – short duration,low amplitude polyphasic units on voluntary activation,spontaneuousfibrillations,positive sharp waves.
- 145. 3.MRI –muscle biopsy
- 146. 4.muscle biopsy – definitive test
- 148. Primary – T cell infiltrates (endomyosial) surround healthy muscle fibers- phagocytosis.
- 149. CD8/MHC 1 –confirms the diagnosis.
- 150. Alkaline phosphatase –react positively.
- 152. Intramuscular BV – endothelial hyperplasia
- 154. Presence of perifascicular atrophy is diagnostic of DM in absence of inflammation also.
- 157. Discontinue the drugs if after trial no improvement of muscle strength.
- 158. 1.GLUCOCORTICOIDS :oral prednisolone –high doses – 1mg/kg/day – 3-4 weeks,taper later 10 weeks – 1mg/kg every other day.
- 159. Lowest possible dose to be used.
- 160. Efficacy by third month
- 161. DM > PM in response.
- 163. 75% patients ultimately require.
- 165. B.MTX : 7.5 mg weekly for the first 3 weeks -2.5mg/wk- 25 mg/wk --- MTX pneumonitis.
- 166. C.mycophenolate MOFETIL – 2.5 mg/d
- 167. D.rituximab - IN DM
- 168. E.CYCLOSPORINE – inconsistent benefit
- 169. F.TACROLIMUS - PM difficult cases.
- 170. 3.IMMUNOMODULATION:
- 171. IVIg in refractory DM -short term benefit
- 172. 2g/kg over 2-5 days /course
- 174. Repeat muscle biopsy
- 175. Calcinosis of DM –difficult to treat
- 176. IBM –resistant to immunosupressive therapy
- 177. Drugs not to be withdrawn
- 178. IVIg and prednisolone – not effective
- 179. PROGNOSIS -5 yr surivival – 95%,10 yr -85%
- 181. Worse prognosis – older,severemainfestations at prsentation
- 182. DM responds favorably than PM,IBM
- 184. Serum CK LEVELS are normal.
- 185. Muscle histology –atrophy rather than destruction.
- 186. All respond to treatment
- 187. THYROID DISORDERS:
- 188. HYPOTHYROIDISM –proximal muscle weakness-1/3
- 189. Slow muscle contraction and relaxation -25% cases.
- 190. Relaxation phase prolonged –ankle,biceps reflex
- 191. Serum CK 10 times normal,EMG normal
- 193. Proximal muscle weakness,atrophy of muscles.
- 197. Acquired hypokalemic periodic paralysis,MG,gravesophthalmopathy
- 198. Serum CK levels are normal
- 199. EMG is normal
- 201. Men>women.
- 202. Basedow paraplegia.
- 203. Atrophy – shoulder and hand muscles.
- 204. Tremor twitches but not fasciculations
- 207. THYROTOXIC HPP- not familial,fewhours,adult life.
- 208. Hypothyroidism aggravates the weakness of MG
- 211. Muscle wasting –striking feature+ cushingoidfacies
- 212. Type 2b fibres atrophy on histology
- 213. Potassium depletion –CONN’S syndrome –NM complications.
- 214. Serum CK LEVELS ELEVATED,vacuoles on biopsy.
- 215. Vitamin D deficiency
- 217. PITUITARY DISORDERS
- 218. DIABETES MELLITUS—THIGH muscles,pain tenderness in thigh Hard induratedmuscle,vastuslateralis
- 220. In cases of severe asthma ,sepsis and shock.
- 221. Neuromuscular blocking agents in 80% cases.
- 222. High doses of corticosteroids 1mg/kg ,pancuronium -500-4,000 mg
- 223. Difficulty in weaning from the ventilator
- 224. Tendon relfexes are normal- diminished –polyneuropathy
- 225. Serum CK levels elevated.
- 226. EMG –MYOPATHY.type 2 fibers vacuolation.
- 227. Striking loss of myosin filaments
- 228. Severe cases– myoglobinuria,renal failure.
- 229. Denervation of muscles –increase in glucocorticoid receptors
- 231. Syndromes of muscle – polymyositis /dermatomyositis,acute necrotizing myopathy.
- 233. Painful myopathy
- 234. Necrosis of muscle– raised CK,myoglobinuria
- 235. Urine is cola coloured .
- 237. Alkalinization of urine –nahco3
- 240. MYOPATHY OF NON DEPOLARIZING NEUROMUSCULAR BLOCKING AGENTS
- 241. DRUG INDUCED MITOCHONDRIAL MYOPATHY
- 242. DRUGS OF ABUSE AND RELATED MYOPATHY
- 243. DRUG INDUCED AUTOIMMUNE MYOPATHIES
- 245. DISORDERS OF MUSCLE MEMBRANE EXCITABILITY
- 247. 1.ANDERSEN TAWIL SYNDROME:
- 249. cardiac arrythmias are life threatening.
- 250. autosomal dominant –kir 2.1 gene
- 251. Acetazolamide
- 254. AR – BEKER’S DISEASE
- 255. Myotonia worsened by cold,improved by activity
- 256. Muscle strength normal in thomson’s
- 259. Lipid abnmyopathies
- 261. Mitochondria are enlarged,bizarrelyshaped,crystalline inclusions
- 264. Recurrent myoglobinuria without fixed weakness and thus resemble a glycogen storage or CPT deficiency.
- 265. MITOCHONDRIAL DNA DEPLETION MYOPATHY :
- 266. Clinically indistinguishgable from muscular dystrophy.
- 267. Simulates DMD
- 268. Seizures,CMP may be present.
- 269. Serum CK 20-30 times normal,EMG –ragged red fibres.
- 270. AR condition
- 272. Hyperexcitability of terminal motor neuron plates.
- 273. Rippling of muscle fibers – myokymia –main clinical sign.
- 274. Walking is laborious –armadillo syndrome.
- 275. Muscle activity during sleep.
- 276. Curare abolishes.
- 278. MOLECULAR AND GENETIC STUDIES OF CONGENITAL MYOPATHIES.
- 279. PHARMACOKINETIC STUDY ON N ACETYL NEURAMINIC ACID
- 280. CHARACTERIZATION OF IBM WITH PAGET’S,FTD
- 281. IS MYOPATHY PART OF STATIN THERAPY –IMPOSTER 16
- 282. STEM CELL TRANSPLANTATION IN IDIOPATHIC INFLAMMATORY MYOPATHY DISORDERS
- 283. ANAKINRA IN MYOSITIS
- 284. THE EFFECT OF STATINS ON MUSCLE PERFORMANCE –STOMP STUDY
- 286. ARIMOCOLOL IN SPORADIC INCLUSION BODY MYOSITIS
- 288. Usually present as proximal muscle weakness.
- 289. The clinical examination reveals wasting>atrophy,DTR being normal.
- 290. Laboratory wise raised CK levels normally.
- 291. Confirmatory diagnosis by MUSCLE BIOPSY .EMG –normal.
- 292. POLYMYOSITIS is usually seen in assosciation with other disorders .diagnosis by exclusion.
- 293. DERMATOMYOSITIS responds well to treatment.
- 294. IBM can be misdiagnosed as PM
- 295. Drug induced myopathy --- check the list for statins,steroids.
- 296. Critical illness myopathy,neuropathy –increasing entity.