Download duchennes mus. dystrophy

DISEASES OF THE MUSCLES
Medicin -- 5th stage -- neuro
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MUSCLE DYSTROPHY
CONG. MYOPATHY
MYOTONIC DYSTROPHY
INFLAMMATORY MYOPATHY
METABOLIC MYO.
ENDOCRINE MYO.
ALCOHOLIC MYO.
DRUG-INDUCED MYO
MUSCLE DYSTROPHIES
INHERITED DISORDERS
PROGRESSIVE MUS. WEAKNESS&WASTING
SUBDIVIDED BY:-MODE OF INHERITANCE
AGE OF ONSET
DISTRIBUTION OF INVOLVED MUSC.
RATE OF PROGRESSION
DUCHENNES MUS. DYSTROPHY
 THE MOST COMMON
 BEGIN AT FIVE,SEVERE DISABILITY BY ADOLESCENCE,DEATH IN
THIRD DECADE
 TOE WALK.,WADDLING GAIT,INABILITY TO RUN
 LOW. LIMBS >UPP. LIMBS
 GOWER SIGN IS POSITIVE
 PSEUDOHYPERTROPHY OF CALVES
 CARDIOMYOPATHY&MENTAL RETARDATION
 CPK IS VERY HIGH
 NO DEFINITE THERAPY
 STEROIDS 1.5mg/Kg/day
 DYSTROPHIN IS ABSENT OR REDUCED
BECKER DYSTROPHY
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SIMILAR TO DUCHENNE
ONSET AT 11 –DEATH AT 40s
CARDIAC &COGNITIVE FUNCTION IS NORMAL
CPK IS LESS ELEVATED
DYSTROPHIN STRUCTURE IS ABNORMAL
LIMB GIRDLE MUS. DYSTROPHY
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AUT. RECESSIVE/CHROM 15
LATE CHILD. TO EARLY ADULTHOOD
SHOULDER&PELVIC GIRDLE MUSCLES
NO PSEUDOHYPERTROPHY
CPK IS LESS ELEVATED
FACIOSCAPULOHUMERAL DYSTRO.
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AUT. DOMINANT
ONSET AT ADOLESCENCE/// NORMAL LIFE SPAN
WEAKNESS IN FACE, NECK, SHOULDER MUSCLES
WINGING OF SCAPULAE
HEART IS NORMAL
CPK IS NORMAL
DISTAL MYOPATHY
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AD
ONSET AFTER 40/// SLOW PROGRESSION
SMALL MUS. OF HANDS &FEET,,WRIST EXT.&FOOT DORSIFLEXORS
MAY BE AR OR SPORADIC
OCULAR DYSTROPHY
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AUTO. DOMINANT COULD BE RECESSIVE
ONSET < 40
SLOWLY PROGRESSIVE
PTOSIS , OPHTHALMOPLEGIA,FACIAL WEAKNESS
OCULOPHARYNGEAL DYSTROPHY
 AUTO.DOMINANT
rd
th
 ONSET: 3 -5 DECADE
 PTOSIS, OPHTHALMOPLEGIA, DYSPHAGIA, FACIAL WEAKNESS
&PROX. MUSCLE WEAKNESS
 MILD ELEVATION OF CPK
PARASPINAL DYSTROPHY
 ONSET >40
 BACK PAIN &KYPHOSIS
MYOTONIA
 ABNORMALITY OF MUSCLE FIBRE MEMBRANE LEADING TO
MARKED DELAY OF RELAXATION AFTER CONTRACTION CAUSING
APPARENT MUSCLE STIFFNESS.
 PERCUSSION MYOTONIA ------- THENAR MUSCLES
AND
TONGUE
MYOTONIC DYSTROPHY]
 AUTO. DOMINANT
rd
th
 MANIFEST IN 3 OR 4 DECADE
 MAY APPEAR IN EARLY CHILDHOOD
 MYOTONIA, WEAKNESS&WASTING OF FACIAL,
STERNOCLIEDOMASTOID&DISTAL LIMB MUSCLES WITH PTOSIS.
 CATARACT, DM,FRONTAL BALDNESS,TESTICULAR
ATROPHY,CARDIAC&INTELLECTUAL DEFECT
 MYOTONIA IS TREATED WITH QUININE SULPHATE300-400mg tds
OR PROCAINAMIDE 0.5-1 gm qds OR PHENYTOIN 100mg tds
MYOTONIA CONGENITA
 AUTO. DOMINANT ,MUTATION IN CHRO.7
 GENERALIZED MYOTONIA , NO WEAKNESS
 PRESENT FROM BIRTH BUT SYMPTOMS MAY NOT DEVELOP UNTIL
EARLY CHILDHOOD
 MUS. STIFFNESS IS ENHANCED BY COLD &INACTIVITY RELIEVED
BY EXERCISE
 MUSCLE HYPERTROPHY SOMETIMES PRONOUNCED
 AUTO. RECESSIVE FORM: LATER ONSET, SLIGHT WEAKNESS, ATROPHY OF DISTAL MUSCLES
 TREATMENT OF MYOTONIA
METABOLIC MYOPATHY
 PROXIMAL MUSCLE WEAKNESS
o CHRONIC HYPOKALEMIA
o ACUTE HYPOKALEMIA OR HYPERKALEMIA
o OSTEOMALACIA WITH BONE PAIN &TENDERNESS,MILD
DECREASE IN SERUM Ca , INCREASE ALK. PHOSPHATASE.
TREATMENT WITH VIT. D
 PERIODIC PARALYSIS SYNDROMES
 MAY BE FAMILIAL, AUTO. DOMINANT
 EPISODES OF FLACCID WEAKNESS OR PARALYSIS
 STRENGTH IS NORMAL BETWEEN THE ATTACKS
 HYPOKALEMIC, HYPERKALEMIC, NORMOKALEMIC
FPP
HYPOKALEMIC
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ASSOCIATED WITH THYROTOXICOSIS
ATTACKS ON AWAKENING,
AFTER EXERCISE OR HEAVY MEAL
MAY LAST FOR SEVERAL DAYS
ACETAZOLAMIDE OR ORAL POTTASIUM FOR PREVENTION
ORAL OR I.V.POTTASIUM FOR TREATMENT
THYROTOXICOSIS SHOULD BE TREATED
HYPERKALEMIC
ATTACKS AFTER EXERCISE
BRIEFER < 1 hr
SOMETIMES ASSOCIATED WITH MYOTONIA
Rx WITH Ca GLUCONATE, I.V. DIURETICS LIKE LASIX OR GLUCOSE
ACETAZOLAMIDE OR CHLOROTHIAZIDE FOR PREVENTION
NORMOKALEMIC
UNRESPONSIVE TO TREATMENT
ENDOCRINE MYOPATHY
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HYPER. OR HYPOTHYROIDISM
HYPER. OR HYPOPARATHYROIDISM
HYPER. OR HYPOADRENALISM
HYPOPITUITARISM
ACROMEGALY
DRUG- INDUCED
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STEROIDS
CHLOROQUINE
CLOFIBRATE
B-BLOCKERS
COLCHICINE
EMETINE ZIDOVUDINE
DISEASES OF NEUROMUSCULAR JUNCTION
MYASTHENIA GRAVIS
 OCCUR AT ANY AGE
 MORE IN FEMALES
 FLUCTUATING WEAKNESS&EASY FATIGUABILITY OF VOLUNTARY
MUSCLES
 WEAKNESS IS DUE TO IMMUNE- MEDIATED DECREASE IN THE
NUMBER OF AchR LEADING TO BLOCK OF N-M. TRANSMISSION
 MAY BE ASSO. WITH THYMIC TUMOR, THYROTOXICOSIS, SLE, Rh.
Arthritis
CLINICALLY
INSIDIOUS ONSET
PTOSIS, DIPLOPIA , DIFFICULTY IN CHEWING OR SWALLOWING,
NASAL SPEECH
RESP. DIFFICULTY &LIMB WEAKNESS
SYMPTOMS ARE FLUCTUATING IN SEVERITY ( DIURNAL VARIATION)
SPONTANEOUS RELAPSES &REMISSIONS
EXACERBATIONS ---- infection, pregnancy, premenstrual &drugs
EXAMINATION ----NO ATROPHY
NO REFLEX CHANGES
NO SENSORY SIGNS
CONFIRM WEAKNESS& FATIGUABILITY
SUSTAINED UPGAZE
REPEATED KNEE BENDING
DIAGNOSIS-
CLINICAL
TENSILON TEST
EMG
AchR ANTIBODIES
CXR & CT CHEST
TREATMENT ANTICHOLINESTRASE
THYMECTOMY
STEROIDS
AZATHIOPRINE
PLASMAPHERESIS
I. V. IMMUNOGLOBULIN