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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” “TENSION MYALGIA” OR ORGANIC DISEASE HOW TO DISCRIMINATE • CAREFUL DIRECTED HISTORY • COMPLETE RHEUMATIC AND NEUROLOGICAL EXAMINATION • PERTINENT LABORATORIES • ELECTROMYOGRAPHY • MUSCLE BIOPSY MYOPATHY CPK MYOPATHY INFLAMMATORY INFECTIOUS NONINFECTIOUS METABOLIC NEUROPATHY CPK NL NON-INFLAMMATORY GENETIC TOXIC HISTORY • WEAKNESS – AFTER EXERCISE – HAIR COMBING, ARISING FROM CHAIR • • • • NEUROLGICAL SYMPTOMS ARTHRITIS OR RASH FAMILY HISTORY EXPOSURES:DRUGS,ETOH PHYSICAL • MUSCLE STRENGTH – PROXIMAL VS. DISTAL • MUSCLE ATROPHY • MUSCLE TONE – DELAYED RELAXATION – FASICULATION • REFLEXES • RASH/ARTHRITIS INFLAMMATORY INFECTIOUS NONINFECTIOUS INFLUENZA POLYMYOSITIS COXACKIE DERMATOMYOSITIS HIV/HTLV1 INCLUSION BODY MYOSITIS TOXOPLASMA SCLERODERMA TRICHINELLA RHEUMATOID ARTHRITIS LUPUS INFLUENZA • MYALGIA VERY COMMON – FRANK WEAKNESS RARE • MYOSITIS OCCURS LATE – RHABDOMYOLYSIS HIV MYOSITIS • OCCURS IN ACUTE HIV – ANTIBODY STUDIES NEGATIVE – PHARYNGITIS AND ADENOPATHY – RHABDOMYOLYSIS • DX BY DIRECT VIRAL STUDIES • HIGH VIRAL LOAD HTLV1 • ADULT T CELL LEUKEMIA – JAPANESE POPULATION • TROPICAL SPASTIC PARAPARESIS – HATIAN POPULATION • ARTHRITIS AND MYOSITIS ASSOCIATED INFLAMMATORY INFECTIOUS NONINFECTIOUS INFLUENZA POLYMYOSITIS COXACKIE DERMATOMYOSITIS HIV/HTLV1 INCLUSION BODY MYOSITIS TOXOPLASMA SCLERODERMA TRICHINELLA RHEUMATOID ARTHRITIS LUPUS DERMATOMYOSITIS POLYMYOSITIS • • • • • HELIOTROPE RASH GOTRENS PAPULES “SHAWL RASH” SYMMETRICAL ARTHRITIS DYSPHAGIA – UPPER AND LOWER • ? MALIGNANCY ASSOCIATION TREATMENT • CARCINOMA SEARCH IN MIDDLE AGE MAN • HIGH DOSE PREDNISONE WITH GRADUAL TAPER TO ALTERNATE DAY THERAPY • METHOTREXATE/IMURAN • IVIG “SALVAGE” MYOPATHY CPK MYOPATHY INFLAMMATORY INFECTIOUS NONINFECTIOUS METABOLIC NEUROPATHY CPK NL NON-INFLAMMATORY GENETIC TOXIC REMEMBER THESE NONINFLAMMATORY METABOLIC GENETIC ENDOCRINE ELECTROLYES DYSTROPHIES ENZYMOPATHY TOXIC DRUGS TOXINS METABOLIC ENDOCRINE ELECTROLYES HYPERTHYROID HYPOKALEMIA HYPOTHYROID HYPOCALCEMIA CUSHINGS HYPOMAGNESEMIA ADDISONS HYPOPHOSPHATEMIA HYPERCALCEMIA THYROID DISEASE • HYPERTHYROIDISM – MODERATE ELEVATION OF CPK – PROXIMAL MYALGIA – MORE COMMON WITH GRAVES • HYPOTHYROIDISM – VERY HIGH CPK’S IN MYXEDEMA – STIFF MUSCLES ADRENAL DISEASE • CUSHINGS – MUSCLE ATROPHY – CPK USUALLY NORMAL • ADDISONS – MUSCLE WEAKNESS – CPK USUALLY NORMAL ELECTROLYTES THE “HYPOS” • HYPOKALEMIA – PERIODIC PARALYSIS • HYPOCALCEMIA – TROUSSEAUS AND CHVOSTEK SIGN • HYPOMAGNESIUM – ETOH ASSOCIATED • HYPOPHOSPHATEMIA TOXIC DRUGS TOXINS COLCHICINE ETOH MEVACOR COCAINE ZIDOVUDINE HEROIN PENICILLAMINE RAPESEED OIL CHLOROQUINE GENETIC DYSTROPHIES ENZYMOPATHY DUCHENNE MYOPHOSPHORYLASE BECKERS PHOSPHOFRUCTOKINASE LIMB-GIRDLE MYOADENYLATE DEAMINASE MYOTONIAS CARNITINE PALMITOYL TRANSFERASE MITOCHONDRIAL MYOPATHY (1) myofibrils (2) sarcoplasmic reticulum (3) terminal cisternae (4) T tubules (5) sarcolemma (6) mitochondria MUSCULAR DYSTROPHY • DUCHENNE – X LINKED: CHILDHOOD – DYSTROPHIN GENE • BECKERS • LIMB-GIRDLE – ADULT ONSET – SHOULDER/ARM ATROPHY MYOTONIA • DELAYED RELAXATION OF MUSCLE • GRADUAL ONSET OF PAIN AND WEAKNESS • VARIABLE GENETICS • HAND GRIP RELAXATION ON PHYSICAL EXAM ENZYME DEFICIENCIES • CARBOHYDRATE METABOLISM – MCARDLE’S:MYOPHOSPHORYLASE • LIPID METABOLISM – CARNITINE PALMITOYL • PURINE METABOLISM – MYOADENYLATE DEAMINASE • MITOCHONDRIAL – OXIDATIVE PHOSPHORYLATION ENZYME DEFICIENCIES • • • • • • • AUTOSOMAL RECESSIVE PRESENT BY 3RD DECADE WEAKNESS/PAIN AFTER EXERCISE MYOGLOBINURIA MUSCLE ATROPHY ELEVATED CPK (AFTER EXCERISE) NO EFFECTIVE RX (?D-RIBOSE) MYALGIA (NO NEUROPATHY) TSH LOW=HYPERTHYROID DRAW CPK, SED RATE, TSH TSH UP=HYPOTHYROID CPK NL CPK UP SED RATE NL SED RATE UP NO DISEASE RHEUMATIC DISEASE ELECTROLYTES ABNORMAL NORMAL UNDERLYING CAUSE EMG NORMAL ABNORMAL FOLLOW PATIENT MUSCLE BX
