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Neurology (Expert Forum)
Familial Spastic Paraplegia
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Familial Spastic Paraplegia
by dancin2drum, Jan 12, 2002 12:00AM
I was diagnosed with hip anteversion and femoral anteversion at age 2 1/2 yrs, neurological based deafness at age 3, spina bifida occulta spondylothesis at age 20, seizure disorder at age 29. The MRI showed a spot deep in the temporal lobe. I started losing mobility and getting a tired feeling in my legs about the same time the seizures started. Now, at the age of 35 I am losing strength (more pronounced than before) in my lower legs and having a mild "charlie horse" feeling when walking for long periods of time, or climbing stairs (is usually not really painful, just mostly embarassing) and my spine is getting worse.
My father, two uncles, great grandfather, and a great cousin have fsp. I was told that the women were carrier's and just the men developed fsp ... usually later on in life. Is there any chance that all my problems could be fsp related? Is there a definitive test available? I was told that the spastin genetic test only revealed @ 45% of the people with fsp. Is there any treatment available? I attend physical therapy three times a week and get steroid injections between L-5 & S-1 every two weeks. Is this all that can be done?
My father, two uncles, great grandfather, and a great cousin have fsp. I was told that the women were carrier's and just the men developed fsp ... usually later on in life. Is there any chance that all my problems could be fsp related? Is there a definitive test available? I was told that the spastin genetic test only revealed @ 45% of the people with fsp. Is there any treatment available? I attend physical therapy three times a week and get steroid injections between L-5 & S-1 every two weeks. Is this all that can be done?
Doctor's Answer
by CCF-Neuro-M.D.-JT, Jan 19, 2002 12:00AM
FSP usually has more spasticity rather than weakness by history and exam. It may be worth looking at your spine with an MRI to amke sure nothing is going on back there which may need surgical intervention as you say it's getting worse. Many other things can cause spinal cord problems such as B12 deficiency and could be evaluated with lab studies. Also, it could also be primary muscle problems such as a myopathy that could be detected with EMG. Consider seeing a neurologist to get a formal exam which should helpyou get started int he right direction.
With your family history of spastic paraplegia, the diagnosis is certainly a consideration with your symptoms. There are various modes of inheritance with different types of FSP-not just the type in which women are carriers. In addition to that type of inheritance pattern (which is very rare), regardless of gender, an affected parent has a 25-50% chance of having a child with disease depending on the type of inheritance. You're right about the spastin gene test, it only accounts for 50% of affected patients. Unfortunately, there is no other definitive test, only a clinical history and exam, and no cure at this time. If spasticty is a big problem, a baclofen pump may be helpful and other supportive measures can be taken. But no cure. Good luck.
With your family history of spastic paraplegia, the diagnosis is certainly a consideration with your symptoms. There are various modes of inheritance with different types of FSP-not just the type in which women are carriers. In addition to that type of inheritance pattern (which is very rare), regardless of gender, an affected parent has a 25-50% chance of having a child with disease depending on the type of inheritance. You're right about the spastin gene test, it only accounts for 50% of affected patients. Unfortunately, there is no other definitive test, only a clinical history and exam, and no cure at this time. If spasticty is a big problem, a baclofen pump may be helpful and other supportive measures can be taken. But no cure. Good luck.
