have a 6ft, 240 lb 15yr old with severe leg pain and weakness. We began seeing a Orthopedist when he was 3 for toe walking and inversion of the feet. Diagnosis.....tibial torsions. Into physical therapy we went with shoe inserts. As he grew he required more and more physical therapy. And is now on his 4 set of inserts. At 12 he began having horrible leg pain. He often was unable to participate in activities and we had to change plans as a result. At this time the x-rays showed flat feet and hammer toes. Leg pain was to the point of barely walking sometimes. All through this the therapist was documenting tight tendons. As a result he had bilateral heel lengthenings in 2007. He did well and was able to perform in the school musical as the lead and grew 6 inches. Then the back spasms started and the unretractable leg pain. It was so bad one day the school wanted to call an ambulance to get him. He has been on many different pain medications. And back to physical therapy again. After the 3rd appointment the therapist refused to treat him saying he needed a hamstring lengthening. Prior to this he had seen 2 different neurologist. The first saying he needed pyschological help since his EMG was normal. The other changed his medicine and again sent him to physical therapy. He usually can't make it all week at school although he walks with a cane. Stairs are impossible and forget getting on the floor. Prior to all this he was active and very helpful. He is becoming depressed because he can't even do simple things. A trip to an amusement park left him crying in pain for 2 days not to mention extremely humiliated. His twin brother is becoming frustrated because he needs to help more around the house. I might add that He had 2 MRI's a lumbar and a thoracic. I am so frustrated and my son is devastated. The doctor told him today surgery of his legs would not help him. We just returned from a 3 day stay at Strong Memorial Hospital in Rochester, NY, 2 hours from our home. They have given him a tentative diagnosis of Hereditary Spastic Paraplegia. Genetic testing is scheduled. Is there anything we can do to help him?
I feel so bad for all of you. Although you don't have a definite diagnosis of Hereditary Spastic Paraplegia, it does sound like what your son has. Physical therapy is extremely important in keeping him mobile, and flexible. Stress, anger, frustration seems to make it worse, so this needs to be addressed with someone knowlegable in teaching him coping skills. There is a national foundation for this, so if you do get a definite diagnosis they can help a lot. Also, a geneticist should be involved, they can answer every question you may have, and are up on all the latest treatments, and studies going on. Blessings to all of you.....
My wife is 30 years old in her family there are 2 son and 1 daughter (herself) they are suffering from HSP - and one brother has died due to this condition, current situation they cannot walk leg muscles are so tight and talking problem as well. according to Neuro Physician this is Hrdtry. Spastic Paraplegia but if this is the cause then why Beclofen is not working on them it was giving them more sleep then nothing, there was no effect of this tab even we reach to dose 50mg, and according to MRI report is very normal, and EGG and EMNG report is ok, I would like to know what could be this problem, Doctors are priscribing medicines based on symptomes only there is no authentic proof that this is HSP because in her family there is no one has suffered with such problem in past 3- 4 generations.
i would like to go for Genetic test which can identify what is the cause of such problem and I have two kids 1 daughet who is 11 year and Son who is 10 years, i would like to protect them with such incase of any hereditary, What test can identify this problem please advise me
Ahhh Kaleem I understand your frustration. I too have HSP - as did and do many others in my family. Baclofen does not work for me at all. Perhaps Zanaflex (a commonly prescribed medication for spasticity) would work better, or even a combination of low doses of both. This is what my father takes. He is wheelchair bound, and cannot walk at all. You must ask a doctor about this, though, as one medication that works for some does not work for others. I cannot take Baclofen at all - it makes my legs much too weak - but I am still walking and not in a wheelchair. I use a walker to get around.
The genetic test for this disease is very expensive and isn't likely to let you know if your children will or will not have HSP later in life. I understand you want to protect them like a good father, but your best route is to make sure your children eat a good diet with lots of fruit and vegetables, enough milk for bone health (and teeth!), and that they exercise through sports or walking/running at least 3 or 4 times a week, but better if it is daily. Watch them closely for signs of walking difficulties, sudden changes, knee or hip problems, numbness in the feet and/or legs, dragging one leg or foot when walking, etc. Nearly everyone in my family did not show symptoms until after reaching at least 50 years old, but my cousin's and my own symptoms began showing at age 17. I am now 48 and even with the many afflicted in my family, I was not diagnosed properly until last year.
As for the tests - all of mine are also normal. No lesions on the brain or spinal cord, no bands --- the only abnormal things are my blood tests for inflammation, which are very high, but for which no cause can be found (yet I was recently diagnosed with Sjogren's syndrome), and some small neurological quirks such as a positive Babinski test and occasional balance issues when I look down. It has been awful all these years trying to get through all of the symptoms and pain and find a proper diagnosis and get some kind of treatment that will work, but so little is known about HSP. There are many forms of it - my family has the "complicated form" as opposed to the "pure form", and all of us have been given diagnoses of multiple sclerosis or arthritis or other diseases we do not have - always it ends up being HSP.
Watching family members suffer is terrible. I feel your pain as well as your wife and her family's pain, Kareem. I do hope you can find the help that all of you need - loved ones of those with HSP suffer a lot of stress and often feel helpless and overwhelmed, and frightened. I will keep you and your family in my prayers.
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