Symptons Update (walking technique 2) and new filming project.

I'm now finding that I'm having to spend more time concentrating on my walking style to avoid my feet tripping up. In the last couple of weeks whenever I'm walking I'm thinking "heel first" and trying to put my heel down before my toes.

I cant work out if I'm changing the way I bend my knee or changing the amount I lift my thigh on each step.

To see if I'm really changing I've also started filming my walking technique with the objective to record a "relaxed" and a "proper" walk every couple of weeks or so. Of course, its very difficult to "relax" properly when you know you are filming yourself, so we'll see how it pans out over the coming months.

Trawl of SPG Variants

I have completed a bit of a trawl of the internet to find out the difference between the types of HSP/FSP. I've summarised this in the following table. The data is predominantly from these pages:
http://www.ncbi.nlm.nih.gov/books/NBK1509/
http://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia
http://neuromuscular.wustl.edu/spinal/fsp.html
And various pages from this site: http://omim.org/entry/613206

Apologies if the table appears a little cumbersome, I used excel to save as a web-page, and then had to mess about with that a little further for it to work here in blogger-land.

I've only included data where I can find it, and I've tried not to re-interpret any data. There have been a couple of inconsistenceis between the sites I got the data from. Interestingly, there appear to be two different claims for SPG40. There are some other spastic paraplegias listed on some sites without SPG numbers. I've not include those here.

SPG	pure/ complex	inheritance	onset	chromosonal locus	number mutations	type	bladder	bowel	speed	wheelchair	Epidemiology
1	complex	x-linked recessive	congenital	xq28		Varied
2	complex	x-linked recessive	childhood-adolescence	Xq22		Varied	yes		slow
3A	most pure	autosomnal dominant	~6	14q11-q21	>40	Missence	some	1/3	slow	rare
4	most pure	autosomnal dominant	~29	2p22.3	>250	Varied	34%		more rapid late onset	17%
5A	pure	autosomnal recessive	1-20	8q12-q13	>17	Missense or Nonsense	66%			some	Tunisian, American, Australian & British families
5B	pure	autosomnal recessive									Tunisian family
6	pure	autosomnal dominant	~22	15q11.1		Missence	10%				Irish/Iraqui
7	most pure	autosomnal recessive	25-42	16q24.3	26	Varied	50%		rapid or slow		European, Moroccan & Turkish families
8	pure	autosomnal dominant	~37	8q24.13		Missence	50%				6 families
9	complex	autosomnal dominant	childhood-adulthood	10q23.3-q24.1							Italian/British
10	both	autosomnal dominant	usuallt infancy/childhood	12q13		Missence/Other	62%		moderate	23%
11	most pure	autosomnal recessive	infancy-adolescene	15q21.1	>70	Nonsense, Deletion & Insertion				most 1-2 decades after onset	North America, Europe, Japan, Turkey
12	pure	autosomnal dominant	~7	19q13			33%		slow	within 4 years	Welsh/Italian
13	pure	autosomnal dominant	~39	2q33.1		Missence, Deletions	14%				2 families
14	complex	autosomnal recessive	30	3q27-q28					slow		Italian family
15	complex	autosomnal recessive	13-23	14q23.3-q24.2		Varied	yes	yes		3-21 years
16	both	x-linked recessive	childhood	xq11.2		Insertion	yes	yes			1 family
17	complex	autosomnal dominant	adolescence-early adulthood	11q13		Missence	18%		slow		>10 families
18	complex	autosomnal recessive	childhood	8p12-p11.21							2 Omani families
19	pure	autosomnal dominant	36-55	9q			100%		slow	some	Italian family
20	complex	autosomnal recessive	childhood	13q12.3		Deletion	some	some	slow	3rd-4th decade	Kuwait & Old Order Amish families
21	complex	autosomnal recessive	2nd and 3rd decade	15q21-q22		Insertion			slow		Ohio Amish
22	complex	x-linked recessive		Xq21							US families
23	complex	autosomnal recessive	childhood	1q24-q32							Arabian family
24	complex	autosomnal recessive	childhood	13q14			No				Saudi Arabian family
25	complex	autosomnal recessive	30-46	6q23-q24							Italian family
26	complex	autosomnal recessive	06-Nov	12p11.1-q14					slow		Kuwaiti family
27	both	autosomnal recessive	25-45	10q22.1-q24.1			yes		slow	some	French-Canadian family
28	pure	autosomnal recessive	6-15	14q21.3-q22.3							Moroccan family
29	complex	autosomnal dominant	~15	1p31.1-21.1			30%			60%	Scottish family
30	complex	autosomnal recessive	12-21	2q37.3				50%	slow		Algerian origin family
31	both	autosomnal dominant	childhood-young adulthood	2p11.2		Varied				some by 30-35	>25 families mostly European
32	complex	autosomnal recessive	6-7	14q12-q21			none		very slow		Potuguese family
33	pure	autosomnal dominant	adulthood	10q24.2		Missence			slow	yes	German family
34	pure	x-linked recessive	late childhood	Xq25-q25			none	none		3-4 decades	Brazilian family
35	complex	autosomnal recessive	4-11	16q21-q23.1			yes				Omani and Pakistani families
36	complex	autosomnal dominant	24-30	12q23-q24			yes				German family
37	pure	autosomnal dominant	32	8p21.1-q13.3			38%				French family
38		autosomnal dominant	17	4p16-p15							Italian family
39	complex	autosomnal recessive	<7	19p13.3		Missence, Frameshift insertion	yes		slow		Ashkenazi-Jewish & Northern European (German) families
40	pure	autosomnal dominant		3q24-q26							Chinese families
40		autosomnal dominant									Caucasian family
41	pure	autosomnal dominant	17	11p14.1-p11.2			some		slow		Chinese family
42		autosomnal dominant	first two decades	3q24-q26		Missence				None	Chinese family
43		autosomnal recessive	7-12	19p13.11-q12			none		slow		Mali family
44	complex	autosomnal recessive	1st/2nd decades	1q41-q42			some	some			Italian family
45	complex	autosomnal recessive	<1	10q24.3-q25.1							Turkish famliy
46	complex	autosomnal recessive	2-7	9p21.2-q21.12			50%		slow		Tunisian family
47	complex	autosomnal recessive		1p13.2-1p12							Arabian family
48		autosomnal recessive	49-50	7p22.1		Varied	Yes		slow		French family