Any one with a teen the has SMA Type I ?

Question

A former patient of mine has SMA 1, she is 14 years old. She is on a ventilator and bed bound. She was able to get up in her wheel chair for hours at a time in the past but due to pain she is unable to. Her pain seems to be in the hip area and it has become so bad that it is causing her to have seizure activity. Her family is at there wits trying so many different drug therapies only to see their daughter unable to stay awake or communicate.They have run out places to go and the drs do not seem to have any answers here in so. California. If there is any one with any thing they could suggest please do so. Thanks

DrSharma · Accepted Answer

Hi there. Spinal muscular atrophy is a neuromuscular disease characterized by degeneration of motor neurons which results in progressive muscular atrophy and weakness. These may require multi disciplinary care like pediatric pulmonology and neurology, orthopedic surgery, critical care, lower extremity and spinal orthosis, physiotherapy, nutrition and genetic counseling. There is an increased propensity for hip dislocation in patients with SMA and includes observation, positioning, skin and perineal care. I think she should be examined for this and an x ray hip would show the pathology. Take care.

Pattyann53 · Answer

Thank you for your response. The patient has been seen at Childrens Hospital LA and Cedar Sinai LA. She had x rays and a CT scan that ruled out any hip dislocation. Are there any analgesic injections that could be injected into the area where the pain is with out causing an altered level of conscience.
FYI -she has had back surgery three years ago, with two rods to correct the scoliosis. She was out of pain for a one and a half years.
      -she can no longer empty her bladder and has to be cathed 6 times a day.
      -she has had multiple bladder infections prior to the order for cathing and after.
      - her most recent diagnosis is autonomic dysreflexia and hypereflexia.
        If you can recommend any other therapy,tests,or a specialist for SMA in LA ( it is too hard for her to travel a long distance). Or if any one would be willing to work with her physician on line or by phone. I am very grateful for your response. Respectfully Patty