View Full Version : Myopathy and Scoliosis & Kyphosis

01-04-2010, 09:45 PM
I'm new to this site. I've used the search function for mitochondrial, myopathy, myoglobin and several other variations that I can think of. Hopefully, this will trigger some information from those out there who have been there and done that and have a dirty T-shirt to prove it.

My son is 20 years old. He's been followed for scoliosis/kyphosis for 10 years. He was in TSLO brace with and extension bar for his kyphosis for at 14 years old for 1 year and a Boston brace at 15 years old for 1 year during his peak growth spurts. His peak height was 5'8". He is now 5"6". His scoliosis curve is 28-30. His kyphosis curve is between 70-72. These have been stable the last 2-3 years even though he's lost 2" in height.

He also has developmental delay and low muscle tone since birth. Seizures began at 20 months. Mild Cognitive impairment, vision and hearing issues, tricuspid valve prolapse, gastro esophageal reflux, tight hamstring, leg length discrepancy of 1" and chronic myoglobin (a muscle protein) in his urine have developed on this journey. His muscle biopsies show partial CPT2--Carnitine Palmitoyl Transferase Deficiency type 2. It is suspected there is another mitochondrial myopathy going on as well because CPT 2 predominantly affects the muscles not all of the other stuff. He is ambulatory except for distances when he uses a wheelchair.

Because of the mitochondrial myopathy, the decrease in lung volume and increased stomach reflux due to the curves, the orthoped is recommending a very involved spinal fusion this summer. He feels and we concur that our son has lost muscle strength and tone over the past year. With the uncertainty of the rate of progression in the mitochondrial disease there is a limited window of opportunity to correct the curves so it gives him the most benefit while his body can still tolerate the surgery and anesthesia risks.

Any suggestions???

01-05-2010, 12:45 AM
Welcome MitoMom. Sorry, I am unable to help you but I hope someone with experience with these issues will come along soon. Wishing you and your son the best.