An 11 month-old boy with severe hypotonia and weakness.

Cunfeng (Frank) Pu, M.D., Ph.D.

Penn State M.S. Hershey Medical Center. Hershey, PA. Last update:


Clinical Information: The patient was a 11 month-old boy. Hypotonia was noted at the time of birth. On physical examination, the hypotonia and weakness involves both muscles of the limbs and the trunk. As per the description of the mother, there was not much progression or improvement or deterioration in the past 11 months. The patient also suffered recurrent respiratory tract infection. A muscle biopsy was performed. The followings are representative photomicrographs:

 

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