Patient with Severe Motor Delay & Hypotonia (SMA-TypeII)

I would like to draw your attention to Amir S., a 5 years old boy with severe hypotonia and motor delay with normal mental state and cognition. His parents who are first cousins, are quite healthy and Amir is their first and only child. According to their parents, early symptoms were at the age of 6 months with motor delay and floppiness. For the first time, I saw him when he was 10 months old with impression of floppy infant. After the complete paraclinical workups, including muscle enzyme study, electroneurodiagnostics and, genetic study with PCR method we reached the ultimate diagnosis of SMA type 2.

Amir is now severely affected by muscle weakness, atrophy and hypertonia. you could kindly see his recent phot below as well as a video clip of prominent fasciculation on his tongue and lips.

   Video Clip     

Would you please share your knowledge and experiment on the following questions. Please kindly mail your comments to mahmoh365@yahoo.com or mohamadi@tums.ac.ir . 

1. What are the new treatment modalities?

2. How could we help the parents to better cope with their child's problem?

3.  

Thanks for your attention and cooperation.

M. Mohammadi MD, Pediatric Neurologist