Author: SSAdmin

First ever systematic study

The most frequent symptoms found were:

incontinence (69.4%)

hesitancy (59.2%)

increased frequency of micturition (urination) (55.1%)

urgency (51.0%).

Incomplete bladder emptying was the rarest (36.7%).

The most common combination of symptoms was to have all of them (14.3%).

Women had a higher risk of increased voiding frequency.

No significant differences in the occurrence of urinary disturbances were found between the pure and complex forms of HSP.

BACKGROUND: Hereditary spastic paraplegia (HSP) comprises a group of rare neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the legs. Neurogenic bladder dysfunction is a well-recognized problem in patients with HSP, but it has not yet been described systematically in the literature. The aim of this study was to provide an evidential overview of the ways in which urinary dysfunction presents in HSP.

METHODS: Forty-nine patients with HSP were included and underwent evaluation. A history was followed by a semi-structured interview and, in those patients who consented, measurement of residual volume of urine (PVR) and urodynamic evaluation.

RESULTS: Thirty-eight subjects (77.6%) reported some type of urinary symptom. Subjective complaints of bladder problems showed a correlation with verified urinary dysfunction. There were no significant differences in the occurrence of urinary disturbances between the pure and complex forms of HSP (pHSP and cHSP, respectively). The most frequent symptoms were incontinence (69.4%), hesitancy (59.2%), increased frequency of micturition (55.1%), and urgency (51.0%). Incomplete bladder emptying was the rarest (36.7%). The most common combination of symptoms was to have all of them (14.3%). Incomplete bladder emptying as a complaint was associated with an increased risk of PVR. Women had a higher risk of increased voiding frequency.

CONCLUSIONS: To our knowledge, this work is the first systematic and disease-oriented overview of neurogenic bladder disturbances in patients with HSP. Our results may be useful to the clinicians who work with HSP patients, allowing them to make appropriate screening and management decisions.

SOURCE: J Neurol Neurosurg Psychiatry. 2009 Sep 2. [Epub ahead of print]

Bladder Dysfunction in Hereditary Spastic Paraplegia: What to Expect?

Braschinsky M, Zopp I, Kals M, Haldre S, Gross-Paju K.

Department of Neurology, University of Tartu, Tartu, Estonia.

Functional Electrical Stimulation

Ian Bennett of the UK HSP group has kindly provided some information on Functional Electrical Stimulation (FES)

Functional Electrical Stimulation (FES) can improve the walking of patients. It involves the use of small electrical impulses to activate paralysed muscles and so produce useful movement. The electrical impulses work by exciting the nerves leading to the muscles. Self adhesive patches (electrodes) are usually placed on the skin close to the nerve supplying the muscle. Leads connect the electrodes to a stimulator that produces the impulses. A common problem with HSP is an inability to lift the foot and toes when swinging the leg during walking, causing the toes to drag on the ground. To improve this activity, stimulation can be applied to the muscles at the front of the legs, activating the muscles that lift the foot during walking.

Ian goes on to say, “FES has already been utilised amongst a number of our members, and proven to be beneficial in enabling us to walk faster with less effort, and perhaps most significantly, less tripping. I have been a user for over six years and it’s been a big plus for me. However it seems suitable for only about 1 in 5 HSPers.”

Learn more about FES.

Japanese government initiative

Cyberdyne makes first steps into a new robotics boom

By Robin Harding in Tokyo

Published: August 9 2009

http://www.ft.com/cms/s/0/67702488-8502-11de-9a64-00144feabdc0,dwp_uuid=1f7e9cc0-80db-11de-92e7-00144feabdc0.html?nclick_check=1

(note: to see a photo of the robotic limbs, click on the above link)

An hour’s drive east of Tokyo, in a cavernous new building in Tsukuba Science City, a company called Cyberdyne is working on a robot called Hal. Rest easy. Cyberdyne Systems may have been the fictional corporation responsible for the Terminator, a cyborg assassin in the eponymus film, and HAL-9000 the computer from 2001: A Space Odyssey, but the goal of Yoshiyuki Sankai, the company’s science-fiction-loving founder, is to make robots that help people rather than exterminate them.

In its work on “assistance robots”, Cyberdyne is at the forefront of what Japan’s government hopes will be a vast new industry and a way to address health and economic issues raised by the dramatic ageing of Japan’s population.

Rather than accept economic decline or allow large-scale immigration to supplement the decreasing population, Japan imagines an army of robot workers. The strategy is spelt out in a science and technology white paper published by the government this year.

“By 2025, more than 30 per cent of Japan’s population is expected to be over 65 . . . At the same time, the number of children will continue to fall, leading to shortages in labour to care for elderly and disabled people, and an increased burden on each care worker,” the white paper says.

It concludes: “In this environment, robots that support people’s independence and cars that are easy to use . . . will be essential.”

This potential has led many of Japan’s largest companies to invest in robotics.

Toyota and Honda have well-funded programs to build humanoid assistance robots. Trading company Sumitomo and Fuji Heavy Industries, which makes cars under the Subaru brand, are trying to sell cleaning robots. And Panasonic is launching a robotic drug dispensary in Japan this year and sees robotics as an attractive future market.

“The development of robots as a business is going to make considerable progress,” said Fumio Ohtsubo, president of Panasonic, in a recent interview with FT.com. “The characteristic precision and attention to detail of Japanese people and companies will be well suited to developing safe robots.”

Cyberdyne differs in that it is building not a free-standing robot but an exoskeleton, which attaches to and amplifies the human body.

Hal – which at Cyberdyne stands for hybrid assisted limb – is a series of white plastic plates, with a motor at each joint such as the hip and elbow, which strap on to the outside of the arms and legs to provide additional power. “Basically, you can pick up something weighing 40kg like this,” says Mitsuhiro Sakamoto, Cyberdyne’s chief operating officer, taking his pen from the desk.

That is only the physical part of the HAL, however. “Our core technology is to detect bioelectric signals and then co-ordinate that with the movement of the suit,” Mr Sakamoto says. Through sensors attached to the skin, Hal detects and interprets electrical signals from the brain telling the arm or leg to move, and activates the exoskeleton simultaneously.

Cyberdyne is aiming for three main areas of application, Mr Sakamoto says. First, in rehabilitation, where a Hal suit or limb can help someone who is recovering after an accident to walk. Second, in helping those who cannot walk to do so, including the possibility of completely artificial limbs that detect weak electrical signals from elsewhere in the body. The third application is in support for heavy work, such as moving patients between beds in a nursing home. Mr Sakamoto showed video of elderly patients using Hal to walk – somewhat jerkily – and the FT was able to move a robot forearm by means of a sensor attached to the skin.

Hal went into commercial use last month, although the technology is still far from perfect. The average price is Y170,000 ($1,750) a month for a five-year rental. A single limb costs Y150,000, while a full “passenger suit” is Y220,000. Hal is being used in three hospitals in Japan, Mr Sakamoto says, and Cyberdyne is working with a partner in Denmark to bring the product to Europe. If the company turns a profit next year, as Mr Sakamoto hopes, that will have been made possible by the extensive research and development grants it receives from the Japanese government.

Four rounds of venture capital have raised Y4bn to fund commercial development. Daiwa House has been the biggest external investor.

Prof Sankai retains 90 per cent voting control, however, because of his determination to see that Hal is never used in its obvious military applications. If Hal fulfils its promise, Japan will be a nation of pensioners in powered suits hurling boulders like snowballs. Let us hope they never hear the words of Hal in 2001, when they go to open the front door: “I’m sorry, Dave, I’m afraid I can’t do that.”

Copyright The Financial Times Limited 2009.

 Fitness – a key to maintaining mobility for HSPers

Part 1 of a 2 part series. (Read Part 2)

by Lea McQuade, Physiotherapist*

The Importance of Fitness

Getting fit and staying fit is probably the single most important thing anyone with HSP can do to manage symptoms and maintain maximum mobility for as long as possible.  Staying fit is a life-long process, a lifestyle choice for everyone, whether or not you have HSP.  Make that choice if you haven’t already!

Fitness can, and should be a result of satisfying, fun, uplifting activity that is a normal part of our daily lives.  No matter how good you feel, being fit will make you feel better, and not just physically, but mentally and emotionally as well.  An active lifestyle along with good nutrition is universally understood to contribute to overall health and wellbeing.

There is now a lot of publicity aimed at encouraging everyone to include greater activity into what is, for many, a sedentary lifestyle.  There is a special challenge for HSPers in getting and staying fit, and that’s what this article is about.  If you are fit when symptoms of HSP first appear, so much the better.  However it’s never too late to start.  So let me say it again Getting fit and staying fit is probably the single most important thing anyone with HSP can do to manage symptoms and maintain maximum mobility for as long as possible.

Weight, Sleep and Exercise

Keeping control over body weight is a huge factor in maintaining mobility as it makes movement easier.  Exercise and a balanced diet are both important in getting control over body weight.  There is the added benefit that exercise generatesphysical tiredness, which then assists with a regular sleeping pattern.

Types of Fitness

Health benefits can be derived from different aspects of body activity:

• Heart/Lung or Cardiovascular (CV) fitness – efficient responsiveness of heart, circulation and breathing to muscular demand.
• Muscle Strength and Endurance  – strong muscles provide stability for efficient force production and endurance maintains efficiency with prolonged or repetitive activity.
• Balance and Coordination – control for joint protection plus flexibility and freedom of movement.
  

Exercise Prescription

If you haven’t been doing strenuous exercise regularly, see your doctor for a check-up and get an okay to start, especially if you are starting later on in life.

There are 3 keys to getting the most health benefits out of any fitness program – activity frequency, intensity and duration.

The generally recommended minimum is:

1. A mixture of different types of activity at least 3 times a week,
2. during which movements are executed at a moderate to higher intensity (a good guide is that you should be breathing hard, but can still hold a normal conversation)
3. with this intensity sustained throughout for at least 20 minutes per session.

Okay, let’s just think about this for a bit.  I need to be breathing hard but can still hold a conversation for at least 20 minutes, 3 times per week.  If I’m not breathing hard enough, it’s not doing the job no matter how long I go for.  If it doesn’t go continually for 20 minutes at that intensity, then I don’t get a significant improvement in fitness (called the ‘training effect’).  And if it’s not 3 times a week, I will find it hard to maintain fitness – and I certainly won’t improve it. 

So taken together, these are fairly demanding requirements, and it will take some special activity because none of the things we normally do these days will provide this much intensity for this long.  Maybe scrubbing floors would do it – but 3 times a week!  Part 2 of this story will detail activities for HSPers that will allow them to achieve these levels.

Remember, these are minimums.  So building up to 30 or 40 minute sessions is good, as is 4 or 5 sessions a week of varied activities.  The amount and intensity of activity it takes to make you breathe hard, but still be able to talk with someone, will increase as you gain fitness.  Build up gradually!

Challenges for HSPers

There are particular challenges for HSPers in getting and keeping fit.  Let’s consider these by the 3 types of fitness outlined above:

• CV – many options are not possible for the average HSPer, but some may be available for a lifetime, including:
  • water sports – swimming and other aerobic activity in water such as aquarobics, aqua running, water polo
  • cycling – at home, in the gym or on the road
  • rowing or paddling – either in the gym or out on the water
  • endurance training with weights
• Strength and Endurance – most HSPers can do weights for strength and endurance.  Certified Instructors are well versed in providing tailor-made programs for strength, endurance or a combination of both.
• Balance and Coordination – Again, instructors can provide you with a program to suit you, while physiotherapists are specialists in this area.
  

Balanced activities for the whole body

Using a mixture of different types of activities will give best overall benefits and guard against possible repetitive strain or overactivity and thus shortening of some muscles.  Make sure your activities include pushing and pulling, reaching up and squatting down and other normal actions.  Squatting can be very difficult for HSPers, however the ‘squatting movement’ is an essential component of controlled sitting down, rather than flopping into a chair, so it is important to work on increasing how deeply you can squat, even if you start by bending the knees only a little.

Allow rest days for recovery, especially initially after a new type of exercise, and do not push yourself into obvious fatigue, as this may leave you open to joint or muscle stress and injuries or increased spasm.  The benefits of exercise occur as a response to training in the following hours and days, not necessarily during the training itself.

Incorporating the gains from exercise into daily living is important, and easy to overlook, especially incorporating improved posture and control.  We prepare for, and execute, exercises with focus and attention, but often don’t do the same for routine movements the rest of the time.  Taking the time to consider the similarity of exercises to daily movements can really benefit how we perform those daily movements, especially in the preparation for movement – sitting down, standing up, lifting something, turning, and so on.  Bring all the good control from exercise into the rest of our lives.

Breaks in Activity – Loss of Fitness

We all have incidents in life that affect fitness, such as illness, work changes, injuries or operations, and other life stresses that can prevent us exercising as normal.  When these situations arise, the aim should be to keep some exercise going if possible and to get back to regular exercising again as soon as we can, being careful to build up again gradually.

Go to Part 2

*Lea has many years experience as a practising physiotherapist.  She has patients with HSP and works to manage their symptoms, maintain their mobility and keep them fit.

 

 

 

 

 Invitation to Participate

mso-ansi-language:EN-US”>WE MOVE is a not-for-profit organization that utilizes creativity, innovation, and collaborative approaches to improve awareness, diagnosis, and management of movement disorders among people living with these conditions and the professionals who care for them.

mso-ansi-language:EN-US”>To better understand the management of spasticity, WE MOVE is 

mso-ansi-language:EN-US”>Another suggestion – tell your doctors about this survey so that they can tell their patients.this link.

mso-ansi-language:EN-US”>The goal of the survey is to collect responses, analyze them and 

mso-ansi-language:EN-US”>Thank you for taking the time to complete the Spasticity Survey.

mso-ansi-language:EN-US”>WE MOVE

 

 

Breakthrough in design and function

Whirlwind Wheelchair International works to make it possible for every person in the developing world who needs a wheelchair to obtain one that will lead to maximum personal independence and integration into society. In order to fulfil this mission, WWI seeks to give wheelchair riders a central role in all of its projects and activities.

Whirlwind Technology has been taken to over 45 countries worldwide, providing the best in wheelchair design and construction utilizing local resources.

The nearest factory to Australia mass-producing these amazing chairs is located in Vietnam.

Here’s a video clip from YouTube demonstrating just what it can do.

Krystal changes her destiny

ed note: this story is about breast cancer but the family planning issue is relevant to HSPers, and the option taken here is available to HSPers.

Sydney Morning Herald

March 29, 2009

KRYSTAL BARTER calls it the family curse – four generations of women who have had breast cancer, each carrying a mutation in the BRCA1 gene.

Knowing she, too, carries the rogue gene that increases the likelihood of developing breast cancer to up to 80 per cent, she was determined she would not become the fifth generation to develop the deadly disease.

So in November, before any cancer was detected, Ms Barter underwent a double mastectomy.

At 25, the Sydney mother of two sons was one of the youngest patients in Australia to undergo the radical procedure for preventative reasons. Now her challenge is to bear a daughter free of the gene, breaking the family curse forever.

Although scientists will allow Ms Barter to choose an embryo free of the gene through pre-implantation genetic diagnosis, they will not allow her to select specifically for a girl. Sex selection is no longer offered in NSW after the Australian Health Ethics Committee ruled against it in 2004, unless it involves a sex-linked disease. Her only option to have a girl free of the gene is to go overseas for expensive reproductive treatment.

“The curse is still there but if we got a girl that didn’t carry the gene fault I would feel like it had stopped,” Ms Barter said. “I know 20 women in the family who have had breast or ovarian cancer.”

Both Ms Barter’s mother, Julie, 48, and grandmother, Val, 72, had double mastectomies after being diagnosed in midlife. They were at her side to offer support through the surgery.

Like most modern mastectomy patients, she had an breast reconstruction immediately after the operation, whereby some of her own skin was retained and stretched over silicon implants.

She is now enjoying her life free from the “cloud of cancer”. The double mastectomy – which included removal of her nipples – means her chances of getting the disease have now been reduced to about 1 or 2 per cent. She credits her husband, Chris McCracken, 31, and two young sons, Riley, 4, and Jye, 15 months, with giving her courage.

“It was a hard decision to make but the outcome is very empowering, to change your destiny,” she said. “To be able to say to my husband: `Don’t worry, I’m not going anywhere.’ “

Ms Barter brought her surgery forward when a screening procedure found changes in her breast cells that could have been an early indicator of breast cancer.

Sydney endocrine and breast surgeon Dr Mark Sywak said that preventative double mastectomy was becoming more common thanks to genetic screening.

“It’s pretty tough but for a lot of the patients I operate on, they’ve seen mothers, grandmothers, sisters and aunts die from breast cancer so for them it’s a reasonably easy decision to make,” he said.

Dr Kathy Tucker, head of the Hereditary Cancer Clinic at the Prince of Wales Hospital, said about 10 per cent of women carrying the BRCA1 and BRCA2 gene faults chose to have a risk-reducing mastectomy. However it was not the only option, with young women at high risk of breast cancer now being eligible for the Medicare rebate for MRI breast scans.

Ms Barter is an ambassador for the National Breast Cancer Foundation and works full-time on her website www.pinkhope.org.au.

13yr old girl writes about life with HSP

This is Marina Kracht’s story (212KB pdf file) (translated from her native German) of her life with HSP.

Research with Cerebral Palsy kids

Dr. John K. Fink, leading HSP neurologist and researcher in the US says a new study shows the benefits of resistance training on kids with Cerebral Palsy.

Dr. Fink says “I believe the findings are important for us (HSPers) too, as their (CP) disturbance is also due to lower motor neuron issues. As I’ve often pointed out, it has not been uncommon for kids with HSP to have been initially diagnosed as having CP”.

The theory is (and Dr. Fink witnesses with his patients) that proper Physiotherapy / exercise can improve function and probably slow down progression a bit.

Purpose:

This study was performed in order to examine the effects of progressive resistance training on muscle tone and strength of the hamstrings and quadriceps muscles as well as the effects on functional outcomes in children with bilateral hypertonic cerebral palsy (CP).

Participants:

This pilot study consisted of a convenience sample of 8 subjects (four boys and four girls) between the ages of 6 and 12 years. Inclusion criteria consisted of the following: diagnosis of bilateral hypertonic CP, ability to walk without aids and follow instructions, age range of 5 to 12 years, and provision of informed consent. Exclusion criteria consisted of the following: debilitating illness before or during the study, cardiac conditions that may be affected by exercise, and medication that could possibly affect muscle strength or tone.

Methods:

The study consisted of 6 weeks of training with measurements taken at baseline, 6 weeks, and 4 weeks post-training. The progressive resistance training protocol included a seated leg extension and a prone leg curl that began at 65% of the mean maximum isometric strength value for each subject. Maximum strength was re-assessed every 2 weeks in order to reset the 65% training value. Training occurred three times per week with at least one day of rest between sessions. Free weights were used in the study in the form of adjustable weight cuffs. Functional measurements consisted of a 10-meter timed walking test, assessment of isometric muscle strength using a Penny and Giles Transducer Myometer, and assessment of muscle tone by a resistance to passive stretch (RPS) using the myometer.

Results:

Measurement times were compared using a repeated measures parametric ANOVA design. The level of significance was set at 5%. The results indicated that mean quadriceps and hamstrings strength significantly improved from pre to post and pre to follow-up. RPS results were reduced at post-training and continued to decrease to follow-up; however, post-hoc analysis showed that only the pre to follow-up results were significant. Self-selected walking speed increased during the 10-meter walking test after strength training, but decreased to follow-up however, remained above baseline.

Discussion:

The authors stated that during the training protocol, the subjects reported no joint discomfort and that they enjoyed exercising. The significant strength gains were consistent with a prior study that examined the use of isokinetic exercises. The authors noted awareness of the small, convenient sample which may have limited the results and statistical power of the study. In spite of this concern, the study is a good starting point for this type of research. Its many positive results may demonstrate that this type of training is beneficial.

SOURCE: Clinical Rehabilitation, 19, 283-289.

The Effects of Progressive Resistance Training for Children with Cerebral Palsy.

Morton, J., Brownlee, M., & McFayden, A. (2005).

Abstract by Mary Hoffman

http://www.ncpad.org/research/fact_sheet.php?sheet=644

This fact sheet was last updated on 09-08-2008.

MolMed complete 100th test

The MolMed Laboratory who provide the gene testing service for HSP Australia-wide report that they have completed their 100^th test after just 9 months of operation.

The service was launched in February, 2008 following HSPRF funded research to develop best-practice gene tests for SPG4, 3A and 6.

60% of patients tested positive to SPG4 and a few to SPG3A. However there have been no SPG6 positive tests to date.