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 PERIODIC PARALYSIS SYNDROMES 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

FPP HYPOKALEMIC 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 NORMOKALEMIC UNRESPONSIVE TO TREATMENT 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 RHEUMATICA للاطلاع 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 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