Enzyme levels increased in Duchenne's muscular dystrophy?
Ans. d (CPK). (Ref. Harrison's Medicine, 18th /Ch. 387. Muscular Dystrophies and Other Muscle Diseases)Duchennes muscular dystrophy# X linked recessive disorder^# Defective gene: Dystrophin# Presents at birth, appears at 3-5 years and death by 16-18 years# Gower's sign positive# Most common cause of death is fatal pulmonary infection.# Intellectual impairment# CPK is invariably increased (20-100 times of normal), abnormal at birth but decreases later in disease.# Loss of muscle mass.# Definitive diagnosis: Muscle biopsy, shows dystrophin deficiency/mutation analysis of WBCs.# Treatment: steroids and supportive.Muscle dystrophiesTypeInheritanceDefective Gene/ProteinOnset AgeClinical FeaturesOther Organ Systems InvolvedDuchenne'sXRDystrophinBefore 5 yearsProgressive weakness of girdle musclesUnable to walk after age 12Progressive kyphoscoliosisRespiratory failure in 2d or 3d decadeCardiomyopathyMental impairmentBecker'sXRDystrophinEarly childhood to adultProgressive weakness of girdle musclesAble to walk after age 15Respiratory failure may develop by 4th decadeCardiomyopathyLimb-girdleAD/ARSeveralEarly childhood to early adultSlow progressive weakness of shoulder and hip girdle musclesA+- CardiomyopathyEmery- DreifussXR/ADEmerin/Lamins A/CNesprin-1,Nesprin 2,'TMEM43Childhood to adultElbow contractures, humeral and peroneal weaknessCardiomyopathyCongenitalARSeveralAt birth or within first few monthsHypotonia, contractures, delayed milestonesProgression to respiratory failure in some; static course in othersCNS abnormalities (hypomyelination, malformation)Eye abnormalitiesMyotonica (DM1, DM2)ADDM1: Expansion CTG repeatDM2: Expansion CCTG repeatChildhood to adult Maybe infancy if mother affected (DM1 only)Slowly progressive weakness of face, shoulder girdle, and foot dorsiflexionPreferential proximal weakness in DM2Cardiac conduction defectsMental impairmentCataractsFrontal baldnessGonadal atrophyFaciosca- pulohumeralADDUX4 4qChildhood to adultSlowly progressive weakness of face, shoulder girdle, and foot dorsiflexionDeafness Coats' (eye) diseaseOculopha- ryngealADExpansion, poly-A RNA binding protein5th to 6th decadeSlowly progressive weakness of extraocular, pharyngeal, and limb muscles
LDH
SGOT
SGPT
CPK
Genetics