-full termed, natural birth, face down unsuccessful attempt at rotation, failed amnio
-milestones not attained, floppy with head tilt to the right at 6-7 mos.
-orig. wrong diagnosis Wernig-Hoffman age 8 mos
-also ruled out Duchenne's MD
-muscle biopsy at age 10 months and 5 years old unable to determine underlying cause or disease
-muscle weakness upper extremeties
-genetics panel unable to determine origin
I'm currently 21 years of age and still undiagnosed. The muscle weakness has also led to extreme lordosis, which is now impacting my ability to breathe properly. The possible corrective surgery is extremely risky due my weak upper body and chronic lung disease.
Any direction as to what testing I can pursue would be greatly appreciated.
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