DISEASES OF THE MUSCLES
Medicin -- 5th stage -- neuroMUSCLE DYSTROPHY
CONG. MYOPATHYMYOTONIC DYSTROPHY
INFLAMMATORY MYOPATHY
METABOLIC MYO.
ENDOCRINE MYO.
ALCOHOLIC MYO.
DRUG-INDUCED MYO
MUSCLE DYSTROPHIES
INHERITED DISORDERSPROGRESSIVE 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 DUCHENNEONSET 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 15LATE CHILD. TO EARLY ADULTHOOD
SHOULDER&PELVIC GIRDLE MUSCLES
NO PSEUDOHYPERTROPHY
CPK IS LESS ELEVATED
FACIOSCAPULOHUMERAL DYSTRO.
AUT. DOMINANTONSET AT ADOLESCENCE/// NORMAL LIFE SPAN
WEAKNESS IN FACE, NECK, SHOULDER MUSCLES
WINGING OF SCAPULAE
HEART IS NORMAL
CPK IS NORMAL
DISTAL MYOPATHY
ADONSET AFTER 40/// SLOW PROGRESSION
SMALL MUS. OF HANDS &FEET,,WRIST EXT.&FOOT DORSIFLEXORS
MAY BE AR OR SPORADIC
OCULAR DYSTROPHY
AUTO. DOMINANT COULD BE RECESSIVEONSET < 40
SLOWLY PROGRESSIVE
PTOSIS , OPHTHALMOPLEGIA,FACIAL WEAKNESS
OCULOPHARYNGEAL DYSTROPHY
AUTO.DOMINANTONSET: 3rd-5th DECADE
PTOSIS, OPHTHALMOPLEGIA, DYSPHAGIA, FACIAL WEAKNESS &PROX. MUSCLE WEAKNESS
MILD ELEVATION OF CPK
PARASPINAL DYSTROPHY
ONSET >40
BACK PAIN &KYPHOSISMYOTONIA
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. DOMINANTMANIFEST 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.7GENERALIZED 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 WEAKNESSCHRONIC 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
ENDOCRINE MYOPATHY
HYPER. OR HYPOTHYROIDISM
HYPER. OR HYPOPARATHYROIDISM
HYPER. OR HYPOADRENALISM
HYPOPITUITARISM
ACROMEGALY
DRUG- INDUCED
STEROIDS
CHLOROQUINE
CLOFIBRATE
B-BLOCKERS
COLCHICINE
EMETINE ZIDOVUDINE
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