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Neurology (Expert Forum)
Question about Hereditary Spastic Paraplegia
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Question about Hereditary Spastic Paraplegia
by xenakis, Aug 30, 2006 12:00AM
Here's my quick history: paralyzed about 14 years ago, due to what they told me was transverse myelitis (no lesions showed up at the time, if I recall correctly). I mostly recovered, though with some gait problems and unable to run very fast.
Everything was fine for a long time, until about 7 years ago I started having temperature dysregulation problems. Constantly feeling hot, and sweating excessively. It started off mild but has gotten really bad. Then about 3 years ago, the spasticity in my legs started getting worse, and it's gotten pretty bad by now as well. Most recently, I've been getting dizzy headaches off and on, which are somewhat mild, but make it very hard to get work done. I've done all the MRIs, with contrast and without, and nothing showed up. EMGs, EPs, and other tests all negative (and thyroid problems have been ruled out). Still waiting on my lumbar puncture results.
I have a parent with neurological problems (not sure exactly of what the diagnosis was, but I'm told it was a demyelinating disease other than MS). So my neurologist suspects Hereditary Spastic Paraplegia. I'll be getting those genetic tests soon, though if I understand correctly, those tests miss a lot because it could be one of many genes that are affected.
My question: is this a strange pattern for HSP? Why would I have become paralyzed first, and then be fine for a while, before developing the HSP symptoms?
Everything was fine for a long time, until about 7 years ago I started having temperature dysregulation problems. Constantly feeling hot, and sweating excessively. It started off mild but has gotten really bad. Then about 3 years ago, the spasticity in my legs started getting worse, and it's gotten pretty bad by now as well. Most recently, I've been getting dizzy headaches off and on, which are somewhat mild, but make it very hard to get work done. I've done all the MRIs, with contrast and without, and nothing showed up. EMGs, EPs, and other tests all negative (and thyroid problems have been ruled out). Still waiting on my lumbar puncture results.
I have a parent with neurological problems (not sure exactly of what the diagnosis was, but I'm told it was a demyelinating disease other than MS). So my neurologist suspects Hereditary Spastic Paraplegia. I'll be getting those genetic tests soon, though if I understand correctly, those tests miss a lot because it could be one of many genes that are affected.
My question: is this a strange pattern for HSP? Why would I have become paralyzed first, and then be fine for a while, before developing the HSP symptoms?
Doctor's Answer
by CCF-Neuro-M.D.-SH, Sep 01, 2006 12:00AM
First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes. The symptoms and story you describe is odd for Hereditary Spastic Paraplegia. This condition generally presents with variable progressive gait problems that finally end in paralysis, not a sudden transient paralysis that then resolves partially. Your story is indeed more consistent with a transvere myelitis or spinal cord injury of some kind (vascular or inflammatory). It sounds like you have had the right tests and I would also recommend the genetic testing, since there are always new variants being discovered. I would make sure that your evoked potentials were done on the lower extremity and the upper extremity (the lower is abnormal in HSP, but the upper is often normal). With your current symptoms of dizziness and headaches, I would make sure they have evaluated your posterior circulation blood vessels. Veterbro-basilar insufficiency can cause transient paralysis, gait problems and dizziness, headaches. An MRA (Magnetic resonance angiogram) would be a place to start, but you may need a formal cerebral angiogram.
I hope this has been helpful.
I hope this has been helpful.
I will begin by saying that the diagnosis of HSP is a diagnosis of exclusion , meaning the other disorders that cause similar picture should be excluded by detailed investigations, and I'm sure your doctor did that. I'm not sure if genetic testing is available for the few abnormal genes out of the research media?
Any way, HSP is divided to
1- Pure type were only spastic lower limb picture like you but some reports mentioned that you may get bladder problem and some sensory complaints.
2- Complicated type were the person may get any other neurological symptomes and usually starts at a later age (after 30)
The obligatory criteria suggested for the diagnosis of pure HSP includes:
1-positive family history if of a dominant inheritance only
2-progressive gait disturbance, spasticity of the lower limbs, and hyperreflexia of the lower limbs.
3- The most important is "Gait disturbance progresses slowly without exacerbations, remissions, or worsenings" so what happened 14 years ago were weakness was the dominant feature and was sudden is not in keeping with HSP and could be a different entity though if it was months apart we could think of infectious causes or even autoimmune diseases
Regards,
Bob
Is the paralysis so out of character with HSP as to make it very unlikely, or do we just not know enough about HSP to say with any certainty?
By the way, the LP's came back negative as well.
Generally ,If muscle weakness is present, it usually involves iliopsoas muscle (flexion of th hip), tibialis anterior (dorsiflexion of the foot), and, to a lesser extent, the hamstring muscles (bending the knee).
Take care
Bob