Author: SSAdmin

Muscle strength in HSPers is decreased in most of the muscles of the leg, and muscle stiffness is increased. Muscle weakness is worse the further down the leg you go.

 

Muscle weakness in all the major leg muscles has been found in this study to be a significant limiting factor affecting walking in people with HSP. Muscle stiffness is the other important factor identified.

 

These findings contradict other reports that weakness is not a limiting factor in HSP, but are in line with what some physiotherapists are reporting in their assessments of HSP patients.

 

Different factors impact on walking in people with HSP, compared for example, with people who have cerebral palsy, despite spasticity being a common factor in both conditions. The results suggest that clinicians should assess and target both muscle strength and stiffness in people with HSP.

This study investigated the relationship in HSPers between muscle strength, stiffness (the tension felt in the muscles when the limb is moved by the therapist, with the participant relaxed) and spasticity, and difficulties bending the knee when walking. To do this, they compared the walking patterns, strength, spasticity and muscle stiffness in 20 people with HSP to 18 unimpaired people.

When they analysed the data they found muscle strength in HSPers is decreased in most of the muscles of the leg, and muscle stiffness is increased, especially in the calf muscles. The major muscles used to lift the foot are located on the front of the lower leg. These are 50% weaker in HSPers. Difficulty lifting the foot is exaggerated by stiffness in the calf muscles, which are 35% stiffer in HSPers. As well as the stiffness, HSPers’ calf muscles are also weaker. The thigh muscles of HSPers were also found to be stiffer.

While muscle spasticity was noted in people with HSP, they reported that this was not related to changes in the way that the knee moved when stepping. Instead they reported that less knee flexion (bending) during the ‘swing phase’ (when stepping forward) was associated with stiffness in the thigh muscles, and decreased strength in the calf muscles affecting the push-off before the leg swings forward.

Glossary (click on diagrams to enlarge)

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paresis = weakness

knee flexion = the bend at the knee of the trailing leg during walking

knee flexors = muscles at the back of the thigh

knee extension = the straightening of the front leg as it swings through in walking

knee extensors = muscles at the front of the thigh

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dorsiflexion = upward movement of the foot

dorsiflexors = muscles on the front of the leg below the knee

plantarflexion = downward movement of the foot

plantarflexors = calf muscles

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BACKGROUND:

People with Hereditary and Sporadic Spastic Parapresis (SP) walk with a stiff legged gait characterised by a lack of knee flexion.

OBJECTIVE:

We investigated the relationship between lower limb strength and stiffness and knee flexion during swing phase while walking in 20 people with SP and 18 matched controls.

METHODS:

Maximal isometric strength was measured using a dynamometer. Passive stiffness and spasticity was assessed during motor-driven slow (5°/s) and fast (60°/s) stretches at the ankle and knee while the subject was relaxed or preactivating the muscle. Walking was assessed using 3D motion analysis.

RESULTS:

Isometric muscle strength was decreased in people with SP with over a 50% reduction in strength being found in the ankle dorsiflexors. Passive stiffness, assessed during slow stretches, was 35% higher in the plantarflexors in people with SP (P<0.05). Faster stretches induced large stretch evoked muscle activity and over a 110% increase in stiffness at the ankle and knee in people with SP reflecting the presence of spasticity (P<0.05). However, stretch reflex size and stiffness was similar between the groups following identical stretches of the pre-activated muscle (P>0.05). Lower knee flexion during swing phase was associated with reduced knee flexion velocity at the end of stance phase which in turn was associated with reduced plantarflexor strength and increased passive stiffness in the knee extensors.

CONCLUSIONS:

The relative importance of muscle paresis and passive stiffness in limiting walking in SP suggests that these impairments should be the target of future therapies.

 

Gait Posture. 2012 Feb;35(2):266-71. Epub 2011 Nov 1.

Muscle paresis and passive stiffness: key determinants in limiting function in Hereditary and Sporadic Spastic Paraparesis.

Marsden J, Ramdharry G, Stevenson V, Thompson A.

School of Health Professions, Peninsula Allied Health Centre, University of Plymouth, Derriford Road, PL6 8BH, UK.

 

Take the 30 day Balance Challenge

 

Many HSPers find themselves less steady on their feet over time and experience significant balance issues. However there is something you can do about it.

 

There are 3 types of balance work:

1. on a stable surface
2. unstable surface, and
3. closed eyes.

Safety Warning!! Doing any of these balance exercises significantly increases the risk of toppling over and falling. Make sure that you do these exercises in an area free of obstacles, and with a firm structure within arm’s length to steady yourself if you need to when you lose your balance. Working with a bed behind you and a wall in front of you seems to work well.

1. Standing with just one foot on the floor

Start by spending a few minutes every day balancing on one foot, changing feet to ensure both feet get about the same level of balance activity. At the beginning, the foot/ankle may well be quite stiff and fixed, and you can easily lose your balance. The secret to developing balance is to allow or make the foot and ankle wiggle and adjust to maintain balance in a series of constant small corrections. After a few days or weeks, you may notice that you can stand on one foot for a longer period of time. Note: do not lean against a wall or hold onto the back of a sofa, but position yourself to be able to brace against something solid to avoid a fall.

 

(Click on images to enlarge)

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2. Standing on an unstable surface

When you feel like more of a challenge and are ready to progress, practising your balance on an unstable surface is the next step. A balance pad is ideal for this purpose. They cost from $33-100 and are available in Australia from:

https://www.hartsport.com.au/products/6-711

http://www.physiosupplies.com.au/fitness/Balance-Pad.html

http://www.sportstek.net/prices/products.php?cat=14

http://www.empind.com.au/shop/item/balance-pad-shoulder-pad-yoga-cushion

Some of these sites also have useful instructional videos about the balance pad and its use.

Start by standing on the balance pad with both feet, and when comfortable on the unstable surface, progress to standing on one foot at a time, using the same routine as for the solid floor.

 

3. Balance practice with your eyes closed

Depending on your level of skill and comfort, you may want to start the ‘eyes closed’ practice standing on both feet on a solid floor. When you get comfortable, try standing on the balance pad on both feet with your eyes closed.

To feel movement in the foot and ankle better, this exercise is recommended done barefoot or in socks.

Note: all balance work with eyes closed should be done with both feet in contact with either the floor or balance pad.

Warning!! don’t ever try eyes closed exercises on one foot as there is a high risk of falling.

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Here is one HSPer’s story of improving her balance:

“I have HSP and though I work out to stay fit and strong, I noticed my balance was getting worse. I was getting progressively more unsteady on my feet, and started using a cane most of the time. Though I put it off for years, I promised myself I would learn what I could and do some work to try to improve my balance.

I committed to adding three minutes of balance practice to my alternating gym routine of stretching/strength work and cardiovascular work. First I started just balancing on one foot at a time.  I learned quickly that just standing on one unmoving foot/ankle – like a dead stump – would have me toppling quickly.  I discovered – here’s the important part! – that we need to learn to wiggle around a bit on the standing foot and ankle. After weeks of this balance practice, I noticed improvement in my ability and felt I was ready for something more advanced. When I asked a physiotherapist about the possibility of improving balance, I was told there are 3 types of balance work:  stable surface, unstable surface and closed eyes.

To advance to ‘unstable surface work’, I added a balance pad to my daily routine. I stood with one foot on the wiggly pad and one foot lifted. This was more challenging than standing one footed on a stable surface but again, with time I got better.

Now the tricky part! I tried to find a way to do balance practice with my eyes closed and I did some things that were not pretty! Luckily I didn’t hurt myself! Eventually I found a good, safe, effective way to do more advanced balance work. Here’s what I did. I stood, with both feet on the wiggly pad and my eyes closed. I found a safe way to do this, with my pad on the floor, between my bed and a wall. I do the work standing, facing the wall and if/when I lose my balance I end up plopping down in a sitting position on the bed, without getting hurt.

So I stand on the Balance Pad on both feet (feet about shoulder width apart, pointing straight ahead, knees slightly bent and over my toes) with my eyes closed. I didn’t know if this would be helpful, so I decided to take the 30 day Balance Challenge and spend 10 minutes a day for 30 days as a trial to evaluate effectiveness.

Based on notes I took, as early as the first week of my trial, I noted: “more sensation in ankles prior to exercise”. All through the month I’d had significantly more feeling and warmth in my ankles, not just during or immediately after the 10min routine, but continuously. I didn’t realize prior to this work that foot to leg, I was quite fixed and inflexible. While doing this exercise I am quite aware of the movement of my ankles/ankle muscles and I’m also quite aware of my hamstring and gluteus muscles. Too, pushing my knees out, instead of letting them tip in like they tend to do, seems to engage certain gluteus muscles.

The results of my 30 day trial:

• When standing I feel more stable.
• I can walk across uneven surfaces with more stability.  If I do stumble I can move my feet quicker to regain stability.
• In terms of using surfaces to steady myself, I would ‘surf’ when walking inside, using furniture to help maintain balance and I find myself using those surfaces to stabilize myself significantly less.
• I seem to have more options as I walk or manoeuvre. For example I don’t just stand, then turn, then walk, as I used to before. I find myself combining things. I can turn and step backward in one movement. I can step sideways where previously I could not.
• If I do feel unsteady or catch my toes, I can move my feet quicker to regain stability.
• I have increased speed of response and increased flexibility of the ankle, allowing a greater range of responsiveness, which seems to increase stability.”

 

Here is how a physiotherapist describes what is going on:

With conditions like HSP there is loss of control and therefore fixing strategies at both foot and hip/pelvis/core. With fixing comes less information from the world around you, disuse is added to weakness etc and more reliance on fixing and holding on etc.  This can allow spasticity patterns to gain greater control too and reduces speed of appropriate responses.

The challenge to your nervous system to deal with the controlled instability of the pad in your progressive way was exactly what your body needed to wake up resources that are still available to you.

 

There are diverse opportunities for HSPers to be active and enjoy the great outdoors this summer. Getting out in nature and getting physical, plus the social aspect, can be very good for you, as well as for children with HSP.

 

Here are a few ideas – programs that cater for those with disabilities for this Australian summer, with special gear and assistance, and reduced pricing.

 

Able Management Group (AMG) provide summer activities including motorcycle and off road buggy riding, paragliding and microlighting, camping and 4 wheel driving, fishing, rafting, kayaking and swimming at the camp, biking and hand cycling.

 

Look here for summer activities:

http://www.ablemanagement.com.au/Activities/Summer/Summer-Activities.asp

 

Australian Waterski and Wakeboard Federation say, “Most ski clubs are willing to help teach a person with a disability to water ski, so make contact with your local club today.”  and “Most states will be running Come and Try events over summer” and you can click on any of 5 different Australian states for more information at the following website: http://www.disabledwaterski.com.au/comentry.html

 

The Northern Territory Water Ski Association is committed to the promotion of all water sports with particular emphasis on water-skiing and wakeboarding.  They now own a disabled sit-ski and slalom sit-ski, courtesy of a Department Of Justice, Community Benefit Grant.  People with a disability are now able to enjoy the thrills of water-skiing. Everyone is welcome no matter what your ability – all levels are catered for.  Learn more here:

http://www.darwinskiclub.com.au/page/water_sports.html

 

Western Australia Disabled Sports Association Inc. offers lots of activities.  Start here to browse by activities, including skiing, surfing and sailing:

http://www.wadsa.org.au/index.php?option=com_mtree&Itemid=17

 

The Dreamfit Recreation Program is a series of regular social fun days aimed at getting people with disabilities out enjoying the Dreamfit equipment. Their vehicles include a Wheelchair Accessible Trimaran, Modified 8 Wheel ATV, Joystick Controlled Hovercraft, Hoist Assisted Ski Boat, Accessible Land Sails and plenty more inclusive activities.

http://www.dreamfit.com.au/dream-solutions/projects/recreation-program.aspx#0

 

Sporting Wheelies and Disabled Association has been helping Queenslanders with a range of disabilities to lead active, healthy lives through participation in sport, recreation and fitness since 1977. Sporting Wheelies and Disabled Association coordinates Come and Try Days throughout the year for many different sports, including Paralympic sports, so you can try out equipment, talk to coaches and athletes, and see if it’s something you’d like to pursue for fun or competition.

http://www.sportingwheelies.org.au/our-services/sport/78

 

Disability Sport and Recreation is the health-promoting peak organization for the disability sport and recreation sector in Victoria.  Their mission is to provide and promote positive health outcomes for Victorians with disability through participation in sport and recreation. They seem to have a ton of activities! You can register for free membership on their website and search for the sport or recreation that interests you.

http://dsr.org.au/

 

 

 

 

We’re told that non-communicable diseases (NCDs) such as cardiovascular disease, diabetes, chronic obstructive pulmonary disease and common cancers caused by tobacco, poor diet, insufficient exercise and excessive alcohol consumption account for 60% of global deaths. Obesity and other “lifestyle” conditions trigger a range of chronic illnesses that are swamping medical systems around the developed world*.

 

We also know that leading a healthy lifestyle makes you feel a whole lot better in all sorts of ways while we are alive!

 

Most of us know how to live healthier lives, but why is it so hard for us to do? There are plenty of reasons and excuses:

• I don’t have the time.
• I don’t know how to get fit.
• I don’t have a place to go, or getting there is too hard.
• I don’t have the money to afford that.
• I don’t like doing things I’m not good at.
• I’m not motivated to do something good for myself.

 

The list goes on and on, and as HSPers we have even more excuses.  Don’t get me wrong – they’re good excuses! But these days we all know we should eat nutritious diets, maintain a healthy weight and partake in some physical activities. Hang with me here!

 

Change is hard. There are as many reasons not to change, as there are suggestions for how to change. No one can force you. For those of us not doing what we should to live a reasonably healthy life, maybe it’s time for us to sit down and have a serious talk with ourselves. Read the first two paragraphs again!

 

One of the biggest traps that prevents us changing is negativity… what we think, what we say, how we respond to people, things and situations. Check yourself out for an hour, or a day and see if this is a problem for you. Ask a trusted loved one such as a best friend to tell you honestly if you tend to be negative. No matter how hard you try, nothing much of any importance will change in your life while your experience of the world and a lot of the things in it is largely negative.

 

Use these 3 steps to move away from negativity.

 

The first step is to become increasingly and continually aware of our own negativity, and how negativity from others impacts us.

 

It’s helpful to first recognize all those things you say to yourself in your head like the “I don’t…” or “I’m not…” list above, or some of these others:  Life isn’t fair. I feel like crap. Getting around is too hard. And especially I can’t or I could never do that. Understand how saying and hearing ourselves saying such things as our standard response or thought is unhelpful, if not damaging, on several levels.

 

The next step is to say Stop! Enough! and refuse to let the negativity in and to run our lives, because that’s what it does.

 

The third step is to replace our negative thoughts or negative reactions with something neutral or positive. This can be achieved in a number of ways:

• head talk: My mind is clear and I feel calm and relaxed. I am really enjoying the book I’m reading. So-and-so is such a nice person. I’m looking forward to… .
• quiet time: take yourself off to a peaceful, quiet space – no TV, no radio, no iPod, no mobile, no computer, no book or magazine – and just be, don’t do. Pay attention for 5 min to the one thing that is going on all the time, that is, our bodies breathing. Notice the movement of the body during breathing, the differences between breathing in and breathing out, and also the pause in between. Notice how calming it is just to pay attention to this thing we never think about.
• physical activity: this is the positive opposite of ‘quiet time’. Engage in movement… go for a walk, or sit and stretch, have a workout, play a game, throw a ball for a pet or with a friend, get outside, go to a park and enjoy nature.

 

3 steps… that’s all it takes… to start to turn your life around from a largely negative experience to a largely positive one. Make the 3 steps become a habit – catch the negativity, stop it, replace it. Make it a lifelong habit and you might just find that more things seem possible, and those lifestyle changes that you know you need to make now seem within reach.

 

*Financial Times, August 1, 2012, p.4. Lifestyle conditions increase the pain for medical system.

 

Intrathecal clonidine may be an option for treating spasticity, especially for those HSPers where Baclofen has been found to cause too much weakness.

 

Spasticity and pain are common features of spinal cord disease that may be adequately treated with oral medications in many patients. However, for optimal results it is necessary to use intrathecal baclofen (ITB) or intrathecal morphine (ITM) delivered via a surgically implanted programmable pump in some patients. Most patients who need ITB/ITM therapy respond well but in some clinical situations there are problematic issues.

 

Our review shows that intrathecal clonidine (ITC) is well tolerated over a

prolonged period of time with 18 patients receiving ITC for 5 or more years and six patients for at least 10 years.

 

We conducted an IRB-approved retrospective chart analysis of all our patients on continuous ITC therapy. Our review showed that ITC was efficacious in the following circumstances:

(1) as a single agent for relief of spasticity in patients who had an unacceptable degree of weakness with the use of ITB

(2) as a single agent for relief of spasticity in patients who developed

tolerance to ITB after long-term use

(3) in patients with spasticity and significant weakness, addition of ITC to ITB enables a reduction in the dose of ITB necessary for spasticity relief, thereby decreasing the degree of weakness and optimizes functionality

(4) in combination with ITB in patients with spasticity who also had significant neuropathic pain syndrome and were intolerant to narcotics

(5) for relief of pain in patients with intractable pain and suboptimal responses to ITM or ITM/ITB therapy

 

SOURCE: J Neurol. 2012 May;259(5):982-4. Epub  2011 Nov 5.

Use of intrathecal clonidine in patients with multiple sclerosis or spastic paraparesis.

 

Ho JK¹, Sadiq SA²

¹Department of Anesthesiology, David Geffen School of Medicine at UCLA, Los Angeles CA 90095-7403, USA.

²Multiple Sclerosis Research Center of New York, 521 W 57th Street, New York, NY 10019, USA

 

 

RESTLESS LEGS SYNDROME

Q. Is there any way to reduce the side effects of medication for restless legs syndrome? Ropinirole makes me sleepy during the day, even when I take it at night.

 

DR. MARK MAHOWALD RESPONDS:

A. The short answer is no, but several different medications can be tried, and some may have fewer side effects.

 

Restless legs syndrome (RLS) is a neurologic movement disorder resulting in a need to rub or move the legs while falling asleep. In some cases, RLS is associated with iron abnormalities—a low serum ferritin level. If that is the case, iron supplementation may be effective in reducing symptoms.

 

Medications that can be helpful for treating RLS include dopaminergic agents (relating to tissues or organs affected by dopamine), such as ropinirole (Requip) or pramipexole (Mirapex), which are often used to treat Parkinson’s disease (although the effectiveness of these drugs for RLS does not imply a relationship between RLS and Parkinson’s disease); opiates such as codeine and methadone, which, when used as prescribed to treat a condition for which they are effective, infrequently result in abuse; and gabapentin, an antiepileptic drug.

 

Often, changing the type of medication until you find one that controls symptoms without drug-related side effects may help. A change would be indicated if symptoms are not well controlled or if undesirable side effects occur.

 

None of the complementary therapies for RLS, such as the use of valerian root, have been shown to be effective. Making small lifestyle changes—for example, lowering intake of caffeine, alcohol, and tobacco—and engaging in physical exercise can reduce symptoms in those who have mild to moderate RLS. Additionally, some supplements may be prescribed for deficiencies in folate and magnesium. Keeping a regular sleep routine as well as massaging the legs, taking a hot bath, or using a heating pad or ice pack before bed may also reduce symptoms. Although some of these measures may offer partial relief, they will not likely eliminate all symptoms of RLS.

 

©2012 American Academy of Neurology

 

http://journals.lww.com/neurologynow/Fulltext/2012/08030/Ask_the_Experts__Restless_legs_syndrome.20.aspx

Author Information

Mark Mahowald, M.D., is professor of neurology at the University of Minnesota Medical School in Minneapolis, former medical director of the Minnesota Regional Sleep Disorders Center at Hennepin County Medical Center in Minneapolis, and a member of the American Academy of Neurology.

 

Activities catering to HSPers

There are diverse opportunities for HSPers to be active and enjoy the great outdoors. Getting out in nature and getting physical, plus the social aspect, can be very good for you, as well as for children with HSP. Here are some of the programs that cater for those with disabilities for this Australian winter, with special gear and assistance and reduced pricing.

Snow Sport

Falls Creek Snowsports and Disabled WinterSport Australia (DWA) offers one of the most advanced adaptive skier programs in the world.

www.fallscreek.com.au/disabledwintersport

DWA is a multi-faceted, self-help sporting organisation founded in 1978 by Australia’s first Paralympic skier Ron Finneran and Canadian instructor Bruce Abel. The purpose of DWA is to provide opportunities for people with disabilities to enjoy winter sports and to enjoy the magnificent environment that is Australia’s Snowy Mountains with fellow skiers. DWA conducts regular camp programs at resorts in Victoria and NSW. These programs are designed to introduce individuals and groups with disability to the mountain environment and the joys of skiing and/or snowboarding.

http://www.disabledwintersport.com.au/Pages/About.htm

Able Management Group (AMG) provide access to the Alpine region through the development of adaptive equipment and facilities, so that people with disabilities can participate in sport and recreational activities currently beyond their reach. AMG is based at Norton House, three and a half hours from Melbourne in Harrietville. Become part of the AMG and form friendships that will last a lifetime, through full participation in outdoor sport and recreation in the Alpine area. AMG has equipment that can be tailored for use by members to ensure maximum participation.

Here are their winter activities: http://www.ablemanagement.com.au/Activities/Winter/Winter-Activities.asp

 

Children free of HSP

 

If you are intending to have children and know or suspect that you or your partner might have HSP, now there is the opportunity to explore ways to prevent children inheriting the disease.

 

Briefly here is how it goes:

• The 1st step is to discuss the whole process with a genetic counsellor* so that you are well-informed and well-placed to make good choices.
• Gene testing to see if you have one of the types of HSP that can be tested for (currently 3 types in Australia covering about half of all HSP occurrence).
• If a positive test is found, then options are available to help ensure a child does not inherit the disease.

 

About IVF

In vitro fertilisation (IVF) is a process in which egg cells and sperm are collected from prospective parents (or donors in some cases), and then fertilisation takes place in the laboratory (in vitro). IVF generally is a treatment for infertility when other methods of assisted reproductive technology have failed.

In a standard IVF cycle, the woman’s ovaries are stimulated with hormones so that more eggs come to maturity than in a normal menstrual cycle. These eggs are collected and fertilised with the male partner’s sperm in the laboratory. Eggs that successfully fertilise (embryos) are supported for around five days in special incubators that mimic the conditions in the uterus. Not all embryos survive to Day 5. Of those that do, one is transferred in the uterus and the others are frozen for possible later use.

 

Donor egg or sperm

IVF can also be used with egg donation or sperm donation so the HSPer involved doesn’t risk passing HSP along to their children. This may be of interest to couples where the exact HSP gene fault cannot be identified by genetic testing. If the fertilisation is successful, the embryo can be transferred into the uterus, within which it may implant. Surrogacy, where the woman providing the egg isn’t the same one who will carry the pregnancy to term is also a possibility.

Where a genetic disorder such as HSP may be a factor, IVF can be combined with a technique called Preimplantation Genetic Diagnosis (PGD). This allows couples to rule out or detect the presence of a genetic disorder and ensure the HSP is not passed along. A similar but more general test has been developed called Preimplantation Genetic Haplotyping (PGH).

 

About PGD

PGD involves carefully removing small number of cells from an embryo for analysis and detection of the known HSP mutation. Most commonly, PGD is used where a couple is aware of the possibility that their offspring will inherit a genetic disease. Even though they may not have a problem with fertility, they choose to undergo a stimulated IVF cycle with the aim of producing a number of embryos. Only embryos that do not carry the faulty HSP gene are transferred, ensuring the HSP is not inherited by the child.

http://www.genetics.edu.au/pdf/factsheets/fs03.pdf

 

IVF requires serious consideration

The IVF process can take time and money and requires serious consideration of the issues involved… detecting the HSP mutation; medical issues about having a baby for some HSPers; program availability, and cost.

 

Gene Testing / Genetic Counselling

It is a good idea to see a genetic counsellor* before genetic testing so that you understand the whole process, the issues, choices, commitments and decisions involved. Gene testing for an HSP mutation is the next step.  Testing currently available in Australia covers around half of all HSP incidence, but there are high expectations of being able to detect upwards of 80% of all mutations within a couple of years.

Unfortunately, a negative or uninformative gene test result rules out PGD as an option. A positive test verifies the particular type of HSP carried by a prospective parent, or in some rare cases, by both parents.

Options the genetic counsellor will discuss include IVF, a third party donor, or further gene testing.

Genetic Counselling services available in Australia state-by-state, and in New Zealand, are listed on the NSW Centre for Genetics Education website: http://www.genetics.edu.au/services/counsel

 

What about availability and cost?

From ABC Network (ABC Health and Well Being)    http://www.abc.net.au/health/default.htm:

Availability and cost of genetic tests – useful things to know

• The particular tests offered may vary depending on where in Australia you live and your doctor’s level of knowledge.
• The cost of genetic testing to you may also vary widely depending on whether the test is covered by Medicare, whether you are requesting the test as a private patient of a doctor, or if at a public clinic, the budget of that clinic. Very few gene tests are covered by Medicare.
• Most tests offered through public clinics are wholly or partly subsidised, however, there may be long waiting periods (up to 12 months) for an appointment.
• The best way to find out about options regarding the availability and cost of a particular test is to contact a clinical genetics service.

60 Genetic Fact sheets are available from the Centre for Genetics Education website: http://www.genetics.edu.au/factsheet

 

Where is PGD or PGH currently available for HSP?

IVF facilities in Australia include:

• IVF Australia (http://www.ivf.com.au) locations in Victoria, NSW and Qld
• Genea (http://www.genea.com.au) locations in NSW
• Westmead Fertility Centre (http://www.westmeadivf.com.au) located in western Sydney
• City Fertility Centre (http://www.cityfertility.com.au) Qld, South Australia and Victoria
• repromed (http://www.repromed.com.au) South Aust., Northern Territory, Victoria
• Flinders Reproductive Medicine (http://www.flindersivf.com.au) South Australia
• Perth IVF (http://perthivf.com/) Western Australia
• TASIVF (http://www.tasivf.com.au/) Tasmania

They show cost information on their websites and include Medicare coverage information and payment plans offered. Some of the costs of IVF are covered by Medicare and are available to all Medicare cardholders. Out-of-pocket costs vary widely between IVF providers, so it can pay to compare.

 

* A clinical geneticist is a doctor with specialist genetics training. A genetic counsellor has genetic and counselling training and works with the clinical geneticist and the IVF team. Your GP, neurologist or nearest major hospital can help you with contact information for genetics services.

 

 

7 in 10 HSPers report urgency

In this study, urgency was the most dominant complaint (72.4%), followed by frequency (65.5%), urinary incontinence (55.2%) and hesitancy (51.7%). However, HSPers do not have an abnormal risk of upper urinary tract complications as do those with spinal cord injury.

 

Objectives:

Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by progressive spasticity and hyperreflexia of the lower limbs. Often, patients with HSP experience symptoms of voiding dysfunction. Urodynamic evaluations of these patients are rarely reported in the literature and the etiology of voiding dysfunction remains unclear. The present study characterizes lower urinary tract dysfunction in a large series of patients.

 

Methods:

The medical records of 29 HSP patients who underwent urodynamic evaluation were retrospectively analyzed. The history of lower urinary tract symptoms was noted and the urodynamic findings analyzed.

 

Results:

Urgency was the most dominant complaint (72.4%), followed by frequency (65.5%), urinary incontinence (55.2%) and hesitancy (51.7%). The urodynamic findings showed signs of central neurogenic bladder in 24 patients (82.7%), with detrusor overactivity (DO) in 15 patients (51.7%) and detrusor sphincter dyssynergia (DSD) in 19 (65.5%). Post-void residual (PVR) of >10% of the voided volume was found in 12 patients (41.4%). There were significant relationships between detrusor overactivity and PVR (P=0.005), frequency (P=0.046) and nocturia (P=0.045). Ultrasound examination revealed no upper urinary tract complications.

 

Conclusion:

Despite the presence of DO and DSD, HSP patients do not seem to have a high risk of developing ultrasonographically-assessed upper urinary tract complications after a mean follow-up of 22 years, contrary to spinal cord injury population. These results may guide practitioners in their decision-making about the appropriate evaluation and treatment of bladder disturbances that accompany hereditary spastic paraplegia.

 

SOURCE: Spinal Cord. 2012 Jan 31. [Epub ahead of print] PMID: 22289900

 

Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation.

Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G.