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Tokahfang

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Being halfway between an HSP and PLS diagnosis, I've had a lot of time to learn the nuances of the two diseases. Since anyone with a generic UMN diagnosis ends up here, this seemed a good place to put up some info.

First, the similarities: HSP (Hereditary Spastic Paraplegia/Paraparesis) and PLS (Primary Lateral Sclerosis) are both purely upper motor neuron diseases in action. They usually start out with spasticity and progress to weakness, and both start most often in the legs. (HSP always starts in the legs). They share a mild propensity towards frontal temporal lobe dementia, so people with HSP or PLS are more likely to develop FTD than a normal human. There is no cure for either, and they are both treated with anti-spastic drugs, pain medicines, and muscle relaxers.

HSP Distinctives: HSP is not a "pure" motor neuron disease. While its biggest feature is UMN damage to the upper motor neurons, it does more collateral damage. It has 40-something known gene mutations that cause it, but 50% of all cases are still of unknown origin last I checked. Collateral damage can include anything from optic atrophy to bulbar problems to peripheral neuropathy in the legs, but each genetic cause of HSP has it's own collateral damage list. It tends to eventually impair the bowels and bladder at least somewhat. Aside from isolated symptoms (like losing your voice/swallow), it isn't supposed to affect the upper body past the hands. Even the hands should only be affected in two varieties. Someone with HSP genetics and upper body progression is often referred to as having "Hereditary Spastic Quadriplegia", but HSQ doesn't exist as a formal diagnosis. There is one company that tests for HSP, and it costs $16,000 to have the full HSP spread done in the US, 5.5k for the recessives only. It can be covered by insurance, but you have to get the precise codes for the test and ask your insurance in great detail before having the test.

PLS distinctives: PLS does much less collateral damage, and is considered a pure motor neuron disease. It only has 1 or 2 known genetic causes. (Maybe I'll add the 3rd!) It can start in limbs or bulbar, and can progress througout the body. It doesn't seem to be associated with urinary and bowel problems in most cases. It seems less responsive to current physical therapy techniques than HSP, and also seems to progress past spasticity to weakness more easily. Fatigue also seems more common in PLS. It is significantly rarer than HSP.

As you might imagine, prying these two apart in a clinical setting is crazy hard. I am not the only one in between the two - one woman on the PLS list has a typical PLS progression, but passed HSP on to her son. She had never been genetically tested because her case seemed clear.

If you or your loved one has such a confused case, it can be hard to get proper support from doctors. Your average neurologist doesn't actually know how to address bowel issues, for instance, and will just send you to another specialist. I personally learned everything I know about that kind of stuff from people with spinal cord injuries, who have filled the net with great and practical advice. I owe them my independence, and I'd like to share some of that here.

When I visit another specialist who isn't a neurologist, I put down my condition as "spastic quadriplegia". This expresses my problems, and they usually ask why, which gives me space to explain HSP/PLS to them. If you start off claiming HSP, they often treat you like a paraplegic.

Manual wheelchairs are great, and last a long time for people in between HSP and PLS. If your hands start to go, there are sticky rims that allow you your independence longer, putting off a powerchair until it's necessary. People with HSP commonly compete in wheelchair sport, hike, camp, etc. When you first get one, your desires will be very different than 1 year in. Unless you are a quad, you almost certainly will wish your backrest is half the size in a year, and be fuming at all the heavy extra stuff you had them attach. So don't invest too much into that first one!

Temperature: The spine is one of 4 parts of your neuro system that control temperature, and so at some point your temp might do something crazy. I was always one of those polar bear types, and now I top out at 96.7 on my good days. On my bad days, I drop to 91 or 92. The important thing to know is that you get kinda dumb under 92, and under 90 you need to go to the ER. They will infuse warm saline into your blood to bring up your core temperature and avoid permanent damage. All common anti-spastics (Zanaflex/tizanidine, Baclofen, etc) also lower temperature, so if it's a common problem, you could talk to your doctor about backing off of them.

Neuropathy: Late into HSP, peripheral neuropathy can creep into your legs. Keep an eye on your feet for abrasions, cuts, etc that you didn't feel. Small sensory loss in the legs is pretty common, but can be dangerous if you are unaware of it. If it gets all the way up to your butt, you need a proper cushion to sit on to avoid pressure sores. If you have this problem, developing the SCI habit of moving everything and pressure relieving once every 15 minutes can help. It sounds like a lot of work, but it becomes automatic. There are also small lifestyle changes - like instead of carrying a bowl on my lap, I carry a bowl on a cutting board on my lap.

Bladder:

If it gets bad, you will need to go to a urologist and learn about catheters and the like. Get one with spinal cord experience. There are a lot of options, like procedures that make a hole into your bladder further up that is easier to cath into. For leakage or more minor problems, menstrual pads work great for girls. Guys are not so lucky, but condom catheters are non-invasive and effective. Take care, I've heard the sticky stuff on them can start to irritate your skin.

Bowel:

For us, bowel problems are always UMN, which is the easier of the bowel programs to suceed at. Using a rubber glove that is lubricated (the lube matters!), if poop isn't moving at all, you can gently insert the finger and swirl it around for 3 rotations or so. Don't do it more than 1/15 minutes, and they recommend not doing it more than a few times a day. This is called digital stimulation, and it works by resetting the reflex that moves the system along. If your poop moves, but doesn't come out well, removing it by gloved hand or repositioning it is called digital manipulation. If problems are consistent, taking constant stool softener or using suppositories regularly is typical, but don't go that route if you don't have to. Your body adjusts to them, and your dosage needs increase. If it gets bad, go to the specialists, they will set you up with a program to do ever day, other day, or 3 days so you can get that stuff out of the way in the morning and go about your life.

With HSP being as poorly understood as it is, getting medical support for this stuff can be challenging. If you are looking for more information and your doctor isn't helping, the sci nurses at Carecure can provide a lot of help. There is even a whole forum for us non-traumatically spinal cord injured people.

Let me know if you would like to know about anything else, I'm a geek. =)
 

Zaphoon

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Beky,

Thanks for the informative article! I appreciate the effort that went into posting all of this!
 

Alyoop

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Yea Beky that was fantastic. Thanks for clearing up heaps of details. I am trying to get the digital stimulation out of my head. I was reading it over breakfast....bad idea.

Best wishes
aly
 

johnnyliverpool

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beky..that was a good read..except for the bum stuff..but it gotta be done..thought for a minute that you had diagnosed!ed me, then no!....hsp is not for me....loves johnny..
 

Alyoop

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Johnny now I warned you about that..... Seriously the site puts it in. But yes you are demented:)
 

abbas child

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Doctor Beky... just trying it out, as I think it sounds right. You are the bees knees, Beky. You, Johnny and Aly make a great team. Johnny, the bum stuff was a bummer, but really good to know if needed. If you can self treat....!
 

Tokahfang

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It seems overwhelming at first, the bum stuff, but once you really need it, it's actually much less uncomfortable than the alternative. Honestly, with my trunk strength, I find sitting up on the toilet long enough to get it done is the most difficult part!

I was pre-med before this thing got bad, actually. I don't think I would have made a good doctor then, though, I really didn't have much empathy.
 

abbas child

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You would have empathy now, however. I don't doubt that for a second. Oh, Beky, I'm in a sling sitting and like you, zip trunk strength. Diapers honestly are a great help. In the sling I fall forward and have to be propped back up. But, I'm grateful to be able to still sit at all...diapers alone just doesn't sound so hot.
 

Tokahfang

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I use diapers whenever I'm unsure of what kind of accessibility I'm facing. I figure that at worst, the thing doesn't come up, eh?
 

johnnyliverpool

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what you guys have to put up with!..........and you stay so cheerful.........anyway am glad we got to the bottom of it.............lots of love...johnny..
 

abbas child

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Yes, Johnny, see what you did in getting the PLSers going again? You got to the bottom of things. We who wear diapers are likely lots more cheerful with them than we would be without! Well, you can pick a better subject now. Time to entertain....
 
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