Description

This patient is 3 years old and has low muscle tone (hypotonia), developmental delay, and increased weight. During the first trimester of pregnancy, there was a concern of increased amniotic fluid (polyhydramnios). The patient was born by C-section at 38 weeks and his birth weight was 6 pounds 14 ounces. He had trouble gaining weight initially, but then had issues of being overweight starting at 6 months. A muscle biopsy was performed and showed myofiber smallness mostly affecting type 1 fibers, which is consistent with dysmaturation myopathy. Overall, the patient has been in good health.

Developmentally, the patient has been making progress with therapies he is receiving. His receptive language is good and sensory processing issues are improving. However, he does seem to be regressing in spoken language. In June of 2014, his parents reported that he had about 40-50 words, but now he has very few.