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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