A 25-year-old female was referred to us for evaluation for inherited muscular dystrophy.
Muscular dystrophy is a serious condition, leading to progressive muscle weakness incapacitating the person. It starts with weakness of major muscle groups leading to progressive weakness, inability to walk or stand and eventually respiratory failure and death.
The patient’s family history revealed patient’s brother was diagnosed with the same condition at the age of 14 years and has been progressively getting worse. The patient is married and developing weakness in both her legs to a point where she has developed difficulty with daily activity. She believed that she had muscular dystrophy like her brother when she came to see Dr. Kalyan.
A detailed history and examination were performed, and she was offered GenepoweRx, a comprehensive genomic screening. Our proprietary analytical pipeline did not show any mutations explaining her symptoms. A thorough manual recheck was done by a team of scientists to confirm.
The patient was called back for counselling to inform that the weakness could be psychosomatic in nature as there were no genes pertaining to muscular dystrophy. She would need reassurance and physical therapy and can have normal adult life.
We got a call a year later that her symptoms got better, and she became pregnant. There were no complications during her pregnancy and gave had a healthy child, who is now 8 months old and starting to take first steps.
They were eternally thankful for the GenepoweRx testing and expressed confidence on our analysis.