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Child with low muscle tone, shortness of breath on running, difficulty in getting from sitting position. Chances of chromosome defect?

Hello, My daughter is 10 years old weights 59 pound very leggy always had trouble getting up from the sitting position , running and going up steps has to use both feet instaed of one foot very danty small bone but she is 4feet 5 inches,John Hopkins Hospital check her and said low muscle tone but I feel its more she had small kidneys when she was born or under size they said. gets out of breath when is does run . My youngest son has Down syndrome , could my daughter have some also have a chromzone defeat too , like triple x or some other,, Thank you Bonnie Leuschner
Asked On : Mon, 6 Aug 2012
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Pediatrician 's  Response
HI ITS DR GUPTA
WHAT I CAN COCLUDE FROM YOUR HISTORY IS THAT
YOUR CHILD HAS LESS MUSCLE POWER AND LESS TONE ( MUSCULAR WEAKNESS )
THIS COULD BE DUE TO DOWN SYNDROME , HYPOTHYRODISM , NEUROPATHY, MAYOPATHY AND ALSO DUE TO MUSCULAR DYSTROPHY .
SINCE YOUR DAUGHTER ALSO HAS BREATHLESSNESS THERE MAY BE CARDIAC DEFECT OR FLUID OVER LOAD DUE TO SMALL KIDNAY .
CARDIAC DEFECT IS PRESENT IN MUSCULAR DYTROPHY AND DOWN SYNDROME
AND THERE IS ALSO HISTORY OF DOWN SYNDROME : SO POSSIBILTY COULD NOT BE RULED OUT WITHOUT CHROMOSOMAL ANALYSIS
MUSCULAR DYSTROPHY IS USUALLY PRESENT IN MALE . BUT THIS MAY BE PRESENT IN TURNNER SYNDROME FEMALE CHILD ALSO
ALSO DO CPK LECEL TO RULE OUT MUSCULAR DYSTROPHAY AND NERVE CONDUCTION VELOCITY TO RULE OUT NEUROPATHY
Answered: Thu, 7 Feb 2013
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