MUSCULAR DYSTROPHY

Question 1

DEFINE

Answer 1

PROGRESSIVE X LINKED INHERITED DISORDER

Question 2

SEX

Answer 2

MALE

Question 3

PATHOLOGY

Answer 3

DEFECT IN P21 GENE ON X CHROMOSOME WHICH RESULTS N DEFECT TO CODE DYSTROPHIN GENE .
ABSENCE OF DYSTROPHIN LEADS TO CELL MEMBRANE LEAKAGE, MUSCLE FIBER DAMAGE AND REPLACEMENT BY FAT OR FIBROUS TISSUE.

Question 4

CLINICAL FEATURES

Answer 4

UNSUSPECTED TILL CHILD STARTS TO WALK
DIFFICULTY IN STANDING AND CLIMBING STAIRS IS SEEN
WEEKNESS STARTS IN PROXIMAL MUSCLE OF LOWER LIMB THEN SLOWLY PROGRESSES DISTALLY
GROWERS SIGN IS SEEN
BY 10 YEARS OF AGE - CHILD UNABLE TO WALK AND WHEEL CHAIR DEPENDENT.
CARDIOPULMONARY FAILURE - USUAL CAUSE OF DEATH BEFORE 30 YEARS.

Question 5

INVESTIGATION

Answer 5

CLINICAL DIAGNOSIS BY FAMILY HISTORY AND SERUM CREATININE PHOSPHOKINASE LEVEL - WHICH IS 200 TO 300 TIMES THE NORMAL.
CONFIRMATION BY MUSCLE BIOPSY AND PCR

Question 6

TREATMENT

Answer 6

CORTICOSTEROIDS
PHYSIOTHERAPY, SPLINTAGE AND TENDON OPERATION UNTIL CHILD CAN WALK.