May?

Oh dear, it would appear to be May already!

My intention had been to put up two posts a month, and we are already in May, meaning that April was my first single post month. I'll call that your Easter break!

Symptoms Update (walking technique)

Hi, I've been spending time recently concentrating on how I am walking.

If I dont pay attention, then I'm finding that my feet do drag along the ground a little, effectively I'm not picking my feet up enough. Basically, the balls of my feet rub the floor as I move my foot forwards. This happens when my I know this appears to be fairly common, and I can concentrate on my walking to correct this. I find that this happens more when I'm tired.

This is the description, in detail, of my tripping on flat surfaces comment in my Early Symptoms? post back in June '10.

Sometimes, when I'm rushing around I'm finding that my feet behave in a slightly different way. In this situation, the tips of my toes make contact with the ground as I bring my leg forward.

The other thing I've been trying to do recently is to concentrate on straightening my leg as I walk, so that as my weight passes over my leg I make sure my knee is straight and this then gets a stretch going along the back of my leg.

Interpreting the genetic test results

There appear to be two levels of information on the different variants of HSP. There's a listing where the genetic loci (i.e. the place on the gene where the HSP occurs) are labelled SPG1 for the first one discovered, SPG2 for the second one discovered, and so on. It is easy to find out that SPG4 accounts for 40%-45% of HSP cases. These different types appear to be well documented, including the effects of each. See, for example http://www.ncbi.nlm.nih.gov/books/NBK1509/. It may be worth noting that the name "SPG" refers to SPastic Gait and not to Vyvyans hamster from the young ones.

On the other hand, the results of my genetic test were in a very different form, as noted in my Intron 12 post, and it would appear to be tricky to find a cross reference between the two. There are links that follow links that follow links all over the place, so I am still unsure. So, the first step is to try to understand what the coding of my test result means.

This would appear to be no easy task either! The human genome variation society http://www.hgvs.org/ was a good find.

The first part of the test result (c.) indicates that a coding DNA reference sequence was used. Other letters are used for genomic, RNA etc. sequences.

The next part of the result (1493+2) indicates where on the gene we are talking about. In this case I am looking at the 2nd nucleotide of an intron located between nucelotides 1493 and 1494. (nucleotide = DNA building block, intron = sequence of DNA building blocks). If there is no '+' or '-' part, then it just means the building block on the 'main road' of the gene rather than one of the intron 'side streets'.

The last part of the result (T>A) is what has happened. In my case a T has been changed to an A. (The four building blocks are A,C,G and T). Instead of '>' there could be 'del' for deletion of a block, 'dup' for duplication of a block, or 'ins' for insertion of a block.

For my test result, this was expressed as [=]+[1493+2T>A]. The square brackets are used to denote that the test has been done on both of my chromosones, and the [=] part shows that the sequence is normal in one chromosone.

Please read more here: http://www.hgvs.org/mutnomen/recs-DNA.html and here http://www.hgvs.org/mutnomen/recs.html#ntinumber.

The final part of my investigation was to look at the SPAST gene itself. It would appear that the SPAST gene used to be called SPG4, and that would have answered the question much quicker, but not quite so interestingly. Details of this are here: http://www.genenames.org/data/hgnc_data.php?hgnc_id=11233. This tells me that the SPAST gene is on chromosone 2 between positions 24 and 21. You can find out where some of the other SPG genetic locations are.

Lower Limbs - Teaching myself about muscles

OK, Basics. Despite many years of eating various parts of chickens and other animals, I didnt realise that, the 'Leg' is only the bit between the knee and the ankle. It would appear that the bit between the hip and the knee is called the thigh. Of the leg, the bit at the back is the calf and the bit at the front is the shin. (I did know this last part, particuarly in reference to shin-pads).

My first internet port of call happens to be Wikipedia. There's a very in depth discussion of the leg here: http://en.wikipedia.org/wiki/Human_leg, and I have to admit that on first thoughts its much more complicated than I thought. I quite like this click and look view http://www.gwc.maricopa.edu/class/bio201/muscle/leg1.htm.

On second thoughts, its quite clear that for some of the excercises I do at pilates, there's a lot going on, and even when I take a moment to think how clever we can adjust our muscles to be able stand on one leg, then I shouldnt be suprised at the complexity. Therefore, its time to read the detail of the wikipedia page...

Part 1: Basic movements. There are a number of movement terms used in this, and on many other pages:

• Lateral rotation - rotation away from the centre of the body.
• Medial rotation - rotation toward the centre of the body.
• Extension - making the angle of the joint bigger.
• Flexion - making the angle of the joint smaller.
• Abduction - movement away from the central plane of the body (i.e. spreading your legs)
• Adduction - movement toward the central plane of the body (i.e. bringing your legs together in the middle)

There are some 'nice' pictures here which may help picture some of these movements:
http://www.exrx.net/Articulations/Hip.html
http://www.exrx.net/Articulations/Knee.html
http://www.exrx.net/Articulations/Ankle.html
http://www.exrx.net/Articulations/Foot.html

Because muscles are only able to do useful 'work' when they contract, they are always grouped in pairs. So, when 'work' is done moving a part of the body one of the paired muscles contracts (with the other muscle relaxed). To reverse the motion the contracting and relaxed muscle swap over. Fortunatley, the various muscles are grouped together and given more accessible names. Apologies if anyone thinks I've over simplified this lot...

• At the top, the 'Glutes' are your bottom/bum/buttocks/arse... muscles to extend the hip.
• On the front, the 'Iliopsoas' are the Glutes opposite acting muscles to flex the hip.
• The muscles at the front of the thigh are called the 'Quadriceps' (or quads) to extend the knee.
• The opposite muscles at the back are called the 'Hamstrings' to flex the knee.
• The shin doesnt seem to get much joy in an accessible name. the muscle to flex the foot is the 'Tibialis anterior'
• The opposite muscles at the back are called the calf muscles to extend the foot. Note here soleus and a second set of triceps...

There are many more muscles which I have not mentioned which have different functions. The conclusion of my part 1 is to look for various leg streches that I can do to try and offset some of the overactivity in my muscles. There are many different web pages with leg stretches on. Here's one page http://www.abc-of-fitness.com/stretching-exercise/leg-stretch.asp, you may want to find others.

More in part 2 when I look at nerves.

The condition in types

A quick read around indicates that HSP comes in two conditions, pure (or uncomplicated) and complicated:

Pure HSP: In this case, there will be gradual weakening and stiffening of the legs and development of urinary problems. Sometimes, the sensations of the feet may also be impaired.

Complicated HSP: These people may have various additional symptoms, such as Epilepsy (also known as Fits), visual impairment, deafness, mental retardation, loss of memory, or difficulty in speech and breathing. This form of HSP is very rare.

This text has been lifted from this site, which I found on the HSP support group site: http://www.healthscribes.com/disease/Hereditary+Spastic+Paraplegia+%28HSP%29.

Further investigations required to find out if symptoms of both types start at the same time.

Symptoms Update (pins and needles)

Hi. just a brief update today.

Back when I saw the neurologist, one of the questions he asked was how frequently I got pins and needles. At the time I answered that I only got them when I had been sitting or laying on my limbs for an extended period of time, which I have taken to be normal for most people.

In the last month or so I've been finding that I've has pins and needles coming on in my legs when I'be been sitting on them for much shorter periods of time, perhaps as short a time as a few minutes (which I express these days in terms of "a few bedtime stories" for our son....).

Pins and needles will have to form a channel of investigation for me.

Adolph Strumpell and Maurice Lorrain

The other names by which 'the condition' are known are Strumpell-Lorrain syndrome and Strumpell's disease.

A search on the trusty internet soon identifies that Strumpell and Lorraine are both people. Wikipedia has a page all about Adolph Strumpell, and this quickly links you here - http://www.whonamedit.com/doctor.cfm/1658.html which gives a fuller description.

One sentence directly lifted from here says: His works in neuropathology are of such fundamental importance that he must be ranked among the founders of neurology as a clinical educational discipline in Germany.

Wikipedias page on HSP notes that the condition "was first described in 1883 by Adolph Strümpell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician" (and this phrase seems to get repeated again and again and again)

There, appears to be very little information about Maurice Lorrain, except to note that he was born in 1867. If anyone knows of more detail here, please let me know!

It would appear that the original references for the condition are:

•A. G. G. von Strümpell:
Beiträge zur Pathologie des Rückenmarks.
Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1880, 10: 676-717.
•M. Lorrain:
Contribution à l’étude de la paraplégie spasmodique familiale.
Thesis de Paris, 1898.

These references are from here:http://www.whonamedit.com/synd.cfm/1759.html

Oh, I spot that Lorrain may have favoured the FSP acronym....

Whats in a name?

I have always wondered the difference between HSP and FSP, and have done a little research into the difference. Firstly, a look at the different names by which 'the condition' is known:

Hereditary Spastic Paraplegia
Hereditary Spastic Paraperisis
Familial Spastic Paraplegia
Familial Spastic Paraperisis
Strumpell-Lorraine syndrome
Strumpell's disease

Of course, if you look hard enough on the internet you can find other variations on this. The purpose of this post is to understand the difference between Hereditary and Familial, and the difference between Paraplegia and Paraperisis, with a passing look at Spastic. Strumpell and Lorraine will feature in another post.

Firstly, Spastic: My initial dictionary look ups end up going circular with all the definitions including the word spastic. However, I find how this word is derived - via Latin from the Greek spastikos meaning "drawing in", and first used in 1753 (Merriam Webster dictionary). From then it turns out to be more useful to look up spasticity rather than spastic.

Spasticity: a feature of altered skeletal muscle performance. There is a loss inhibitory control from the brain, such that muscles become overactive. This can cause an ongoing level of contraction, with decreased ability for the individual to control muscle contraction, and feel increased resistance on passive stretches. (paraphrased from Wikipedia)

Familial vs Hereditary: Familial - tending to occur in more members of a family than expected by chance alone. Hereditary - genetically transmitted or transmittable from parent to offspring (both Merriam Webster). Various other dictionaries have similar meanings for both, with the word Heredity popping up quite frequently - the passing of traits to offspring.

Paraplegia: Paralysis of the lower half of the body with involvement of both legs (Merriam Webster). Impairment in motor or sensory function of the lower extremities (Wikipedia). Paralysis of the legs and lower part of the body (medical-dictionary.com).

Paraperisis: Weakness of the lower extremities (medterms.com). There do not seem to be so many definitions here.

Conclusion - Hereditary and Familial are interchangeable. Spastic Paraplegia refers to paralysis of the lower half of the body due to over-active muscles. In my humble opinion, Paraperisis is a red herring and Paraplegia describes this much better, although I accept that paralysis could well give rise to a weakness.

As always, comments welcome.

New Years Resolutions

Merry Christmas.

Just a quick post to announce my new years resolutions. In 2011 I'm resolving to spend more time streching my leg muscles and concentrating on my posture.

Cheers!

Symptoms Update (tense leg muscles)

OK, so I've noticed over the last few weeks that when I stand still the muscles in the top half of my leg are tense, and I have to actively relax them.

I dont know if this is an HSP/FSP symptom or not, but it is different, and thought I'd mention it.

I notice this the most when I am standing still straight after walking, for example when I arrive at the kitchen to make a cup of tea at work.

Of course, I may notice this more and perhaps I can relax my muscles because I've been doing Pilates for a while now. I'd welcome any opinions on this.