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CASE PRESENTATION

CASE PRESENTATION.

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CASE PRESENTATION

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  1. CASE PRESENTATION A 45 YEAR OLD WHITE FEMALE PRESENTS WITH A 5 YEAR HISTORY OF PAIN “ALL OVER”. THIS HAS CAUSED HER TO LOSE HER JOB AS A WAITRESS SECONDARY TO MISSING MANY DAYS OF WORK. SHE HAS BEEN TRIED ON NSAIDS, MUSCLE RELAXANTS, AND ANTI-DEPRESSANTS WITHOUT RELIEF. SHE HAS BEEN TURNED DOWN FOR SSI DISABILITY AND SHE STATES THAT YOU ARE HER “LAST HOPE”

  2. OR “TENSION MYALGIA” ORGANIC DISEASE

  3. HOW TO DISCRIMINATE • CAREFUL DIRECTED HISTORY • COMPLETE RHEUMATIC AND NEUROLOGICAL EXAMINATION • PERTINENT LABORATORIES • ELECTROMYOGRAPHY • MUSCLE BIOPSY

  4. MYOPATHY CPK CPK NL

  5. HISTORY • WEAKNESS • AFTER EXERCISE • HAIR COMBING, ARISING FROM CHAIR • NEUROLGICAL SYMPTOMS • ARTHRITIS OR RASH • FAMILY HISTORY • EXPOSURES:DRUGS,ETOH

  6. PHYSICAL • MUSCLE STRENGTH • PROXIMAL VS. DISTAL • MUSCLE ATROPHY • MUSCLE TONE • DELAYED RELAXATION • FASICULATION • REFLEXES • RASH/ARTHRITIS

  7. INFLUENZA • MYALGIA VERY COMMON • FRANK WEAKNESS RARE • MYOSITIS OCCURS LATE • RHABDOMYOLYSIS

  8. HIV MYOSITIS • OCCURS IN ACUTE HIV • ANTIBODY STUDIES NEGATIVE • PHARYNGITIS AND ADENOPATHY • RHABDOMYOLYSIS • DX BY DIRECT VIRAL STUDIES • HIGH VIRAL LOAD

  9. HTLV1 • ADULT T CELL LEUKEMIA • JAPANESE POPULATION • TROPICAL SPASTIC PARAPARESIS • HATIAN POPULATION • ARTHRITIS AND MYOSITIS ASSOCIATED

  10. DERMATOMYOSITISPOLYMYOSITIS • HELIOTROPE RASH • GOTRENS PAPULES • “SHAWL RASH” • SYMMETRICAL ARTHRITIS • DYSPHAGIA • UPPER AND LOWER • ? MALIGNANCY ASSOCIATION

  11. TREATMENT • CARCINOMA SEARCH IN MIDDLE AGE MAN • HIGH DOSE PREDNISONE WITH GRADUAL TAPER TO ALTERNATE DAY THERAPY • METHOTREXATE/IMURAN • IVIG “SALVAGE”

  12. MYOPATHY CPK CPK NL

  13. REMEMBER THESE

  14. THYROID DISEASE • HYPERTHYROIDISM • MODERATE ELEVATION OF CPK • PROXIMAL MYALGIA • MORE COMMON WITH GRAVES • HYPOTHYROIDISM • VERY HIGH CPK’S IN MYXEDEMA • STIFF MUSCLES

  15. ADRENAL DISEASE • CUSHINGS • MUSCLE ATROPHY • CPK USUALLY NORMAL • ADDISONS • MUSCLE WEAKNESS • CPK USUALLY NORMAL

  16. ELECTROLYTESTHE “HYPOS” • HYPOKALEMIA • PERIODIC PARALYSIS • HYPOCALCEMIA • TROUSSEAUS AND CHVOSTEK SIGN • HYPOMAGNESIUM • ETOH ASSOCIATED • HYPOPHOSPHATEMIA

  17. (1) myofibrils (2) sarcoplasmic reticulum (3) terminal cisternae (4) T tubules (5) sarcolemma (6) mitochondria

  18. MUSCULAR DYSTROPHY • DUCHENNE • X LINKED: CHILDHOOD • DYSTROPHIN GENE • BECKERS • LIMB-GIRDLE • ADULT ONSET • SHOULDER/ARM ATROPHY

  19. MYOTONIA • DELAYED RELAXATION OF MUSCLE • GRADUAL ONSET OF PAIN AND WEAKNESS • VARIABLE GENETICS • HAND GRIP RELAXATION ON PHYSICAL EXAM

  20. ENZYME DEFICIENCIES • CARBOHYDRATE METABOLISM • MCARDLE’S:MYOPHOSPHORYLASE • LIPID METABOLISM • CARNITINE PALMITOYL • PURINE METABOLISM • MYOADENYLATE DEAMINASE • MITOCHONDRIAL • OXIDATIVE PHOSPHORYLATION

  21. ENZYME DEFICIENCIES • AUTOSOMAL RECESSIVE • PRESENT BY 3RD DECADE • WEAKNESS/PAIN AFTER EXERCISE • MYOGLOBINURIA • MUSCLE ATROPHY • ELEVATED CPK (AFTER EXCERISE) • NO EFFECTIVE RX (?D-RIBOSE)

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