DISEASES OF THE MUSCLES

DISEASES OF THE MUSCLES
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

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


AUT. RECESSIVE/CHROM 15
LATE CHILD. TO EARLY ADULTHOOD
SHOULDER&PELVIC GIRDLE MUSCLES
NO PSEUDOHYPERTROPHY
CPK IS LESS ELEVATED

FACIOSCAPULOHUMERAL DYSTRO.

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
AD
ONSET AFTER 40/// SLOW PROGRESSION
SMALL MUS. OF HANDS &FEET,,WRIST EXT.&FOOT DORSIFLEXORS
MAY BE AR OR SPORADIC


OCULOPHARYNGEAL DYSTROPHY
AUTO.DOMINANT
ONSET: 3rd-5th DECADE
PTOSIS, OPHTHALMOPLEGIA, DYSPHAGIA, FACIAL WEAKNESS &PROX. MUSCLE WEAKNESS
MILD ELEVATION OF CPK

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
MANIFEST IN 3rd OR 4th 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
CHRONIC HYPOKALEMIA
ACUTE HYPOKALEMIA OR HYPERKALEMIA
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


FPPHYPOKALEMIC
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
DRUG- INDUCED
STEROIDS
CHLOROQUINE
CLOFIBRATE
B-BLOCKERS
COLCHICINE
EMETINE ZIDOVUDINE
POLYMYALGIA RHEUMATICAللاطلاع
MORE IN WOMEN ABOVE 60 YEARS
MUSCLE PAIN &STIFFNESS ABOUT THE NECK &GIRDLE MUSCLES
HEADACHE, ANOREXIA , Wt LOSS, LOW GRADE FEVER,
RAISED ESR
ENZYMES, EMG, MUS. BIOPSY ARE NORMAL
Rx PREDNISOLONE 10- 15 mg/ day for ? One year
GIANT CELL ARTERITIS


DISEASES OF NEUROMUSCULAR JUNCTIONMYASTHENIA 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
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