Author: SSAdmin

Testing and treatment recommended

 

Three quarters of people who have had HSP for 10 years or more were found to have low bone mineral density (osteopenia or the more severe osteoporosis) according to a large study of people with HSP, Hereditary Ataxia or Multiple Sclerosis.

 

As there are often no symptoms of low bone mineral density prior to an adverse medical event such as a bone fracture, is a good idea for people who have had HSP for several years to ask their medical professionals about getting bone mineral density assessed.

 

 

Abstract

BACKGROUND: Although disability is considered the main cause of low bone mineral density (BMD) in multiple sclerosis (MS), other factors related to the disease process or treatment could also be involved. The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients with the non-inflammatory neurological diseases Hereditary Spastic Paraplegia (HSP) and Hereditary Ataxia (HA).

 

METHODS: We performed a case control study comparing BMD (spine, hip and total body) and biochemical measures of bone metabolism in 91 MS patients and 77 patients with HSP or HA, matched for age, gender and disability. Both patient groups had lived with the disease for at least 10 years.

RESULTS: In total 74.7% of the patients with MS and 75.3% of the patients with HSP or HA had osteopenia (-2.5 < T- score < -1.0) or osteoporosis (T- score ≤ -2.5) in one or more sites. Osteoporosis was more common in patients with MS than with HSP/HA (44.0 vs 20.8%, p =0.001). This difference was not significant after correction for confounders (p = 0.07), nor were any of the biochemical markers.

 

CONCLUSION: Most patients with disabling neurological diseases like MS and HSP/HA develop osteopenia or osteoporosis. MS patients had osteoporosis more frequently than HA/HSP patients, though the difference was not significant after adjusting for confounders. Osteoporosis and bone health should be considered in all patients with both inflammatory and degenerative chronic neurological diseases.

 

SOURCE: BMC Neurol. 2016 Dec 5;16(1):252. PMID: 27919248 PMCID: PMC5139093 DOI: 10.1186/s12883-016-0771-4

 

Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease – a case control study.

 

Simonsen CS1,2,3, Celius EG4,5, Brunborg C6, Tallaksen C4,7, Eriksen EF8,7, Holmøy T9,7, Moen SM4.

1 Department of Neurology, Drammen Hospital, Vestre Viken HF, Dronnigsgate 28, 3004, Drammen, Norway. c.s.simonsen@studmed.uio.no.

2 Department of Neurology, Oslo University Hospital, Oslo, Norway. c.s.simonsen@studmed.uio.no.

3 Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. c.s.simonsen@studmed.uio.no.

4 Department of Neurology, Oslo University Hospital, Oslo, Norway.

5 Institute of Health and Society, Faculty of Medicine, University of Oslo, Oslo, Norway.

6 Oslo Centre for Biostatistics and Epidemiology, Research Support Services, Oslo University Hospital, Oslo, Norway.

7 Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

8 Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway.

9 Department of Neurology, Akershus University Hospitals, Oslo, Norway.

Genetic testing providing insight

 

The explosion of new knowledge about HSP in this decade is painting a more complex picture of:

• the relationships between neurodegenerative conditions

• a wider range of symptom profiles for individual HSP types

• an ever-increasing number of both genes and mutations being associated with HSP, and

• greater diversity in the rates that different HSP genes show up in different countries.

Fundamental to all this new knowledge is the increasing sophistication, availability and affordability of new and better ways of doing genetic testing.

 

The PathWest lab in Perth, Western Australia is highly regarded nationally for its HSP genetic testing service. The lab is headed up by Dr Mark Davis, who shares below an emerging picture of the HSP landscape in Australia, based on the results of hundreds of tests where neurologists suspected HSP. Here is what Mark has to say:

 

Positive HSP gene tests occur at a rate of just over one in three

When the first Next Generation Sequencing (NGS) gene panel was set up in this laboratory in 2012, there were 26 genes known to be associated with HSP. In 2016, when the panel was redesigned to incorporate recent literature on the subject, the number of genes had grown to 92. Somewhat disappointingly, this huge increase in the number of HSP-associated genes has not resulted in a significant increase in the diagnostic rate – the usual suspects are still the usual suspects.

 

Overall our gene panel screening has resulted in answers for 115 of 315 cases tested, a diagnostic rate of 36.5%. This may seem like quite a low rate, however it may well be that a significant percentage of the people tested for suspected HSP may, in fact, have a different neurodegenerative condition. It should not be assumed that all 315 likely have HSP and the testing available today can pick up only around 37%, so the real figure is likely somewhat higher, but not known at this point.

 

SPG4 most common closely followed by SPG7

As with most published studies globally, the SPAST gene associated with SPG4 type HSP accounts for the largest proportion of cases (35/115 – 30%), however the next most frequently identified gene in our laboratory is SPG7 (25/115 – 22%). This compares to recent studies in which SPG11 is the most common positive diagnosis after SPAST (Morais et al European Journal of Human Genetics (2017) 25, 1217–1228; Ishiura et al Journal of Human Genetics (2014) 59, 163–172). In our population, SPG11 accounts for just 4/115 (3%) of cases.

 

The difference is due in part to a specific SPG7 mutation that occurs with higher frequency in people of British ancestry than those of mainland European background – p.Ala510Val (Roxburgh et al, J Neurol 2013; 260:1286–1294). This variant accounts for about half of the SPG7 disease-associated alleles* that we see, and interestingly is also the most common pathogenic variant identified in our sporadic ataxia population. Despite this difference, however, the overall pick-up rate in published population studies is similar to ours (35.7% – 42%).

 

Genetic overlap between neurodegenerative conditions

The introduction of NGS gene panels that include genes for ataxia, HSP and motor neurone disease (MND) together in the one analysis has highlighted the genetic overlap in these phenotypes (physical characteristics or symptom profile). Mutations in SPAST and SPG11 have being identified in a small subset of MND patients and MFN2 mutations, normally associated with Charcot-Marie-Tooth disease (CMT) have been identified in several HSP cases, as well as the earlier mentioned association between SPG7 and ataxia.

 

Question mark hangs over genetics of undiagnosed cases

The question arises as to the cause of the nearly two thirds of cases still undiagnosed. Some cases may be due to variants in known genes that are of a type that is difficult to detect or interpret using current methods, such as non-coding variants. Others may be solved by adding newly-discovered disease genes to the analysis, and to the elucidation of novel inheritance patterns in known genes (such as dominant HSP mutations in KIF1A). Improved knowledge about the role of as yet poorly understood genetic regions such as non-coding RNAs may also help, however it is unlikely that any of these factors will result in substantial improvements to the overall diagnostic rate.

 

*Allele: Alleles are different variations of the same gene. For each gene, we have two alleles – one from each parent (like blue eyes or brown eyes).

Be your own ‘first responder’

 

I was questioned one day on what I would bring with me to a deserted island.

 

I spent some time thinking about this because I have a physical disability. I have complicated Hereditary Spastic Paraplegia (SPG4). It is a rare disease that gradually increases spasticity in the body. With this disease I now use an electric wheelchair to be mobile in the community.

 

The question got me seriously thinking how prepared I am for the next, or any, emergency. I wear an emergency alert button where, if I were to take a fall, I can press the button and get the help that I need. I make sure to have some canned items and bottled water around the house but how prepared am I in actuality, for a natural disaster, for example?

 

Emergency Contacts

So, I created my personal plan. The biggest and most important thing is knowing and having a copy of your emergency contacts. This list should contain three emergency contacts. One of the contacts needs to be from another part of the country. You will have a greater chance of getting through to them with more ‘choice’ of mobile towers, local land lines tied up, in use for emergency dispatch units only, or out of action. The second contact should be closer, but out of your town or city. The third contact is a neighbor (or family member close by) who has keys to your house and that you have ‘trained’ on your own personal evacuation techniques.

 

Personal evacuation techniques can vary person to person. Every person with a disability needs to figure out what reactions they will have in an emergency situation. I know for myself I might have severe spasms and this could make verbal communication hard for me. So that means I need to have things written down so others can know what needs to be communicated.

 

Do your homework and get to know your community resources. Learn to put together your own emergency kit with food, water, medicines and other key necessities.

 

These are a few guidelines you can put in place as you become your own first responder.

 

Read the original article: https://www.santaclaraweekly.com/2017/issue-43/being-emergency-prepared-for-people-with-disabilities/

 

SOURCE: Santa Clara Weekly. Oct 25, 2017-Oct 31, 2017

 

Being Emergency-Prepared for People with Disabilities

 

by Eliza Riley

Eliza Riley is a disability advocate and an ambassador for Abilities Expo abilities.com. She spent time as an AmeriCorps fellow working with CADRE in emergency services and specializing in people with disabilities. She looks forward to seeing and hearing from you at eliza.riley@gmail.com

 

Focus on jobs, walking, well-being and pain

 

The regular annual survey of HSPers that is put together by UK HSPer, Adam Lawrence, who is now also the Chairman of the UK HSP Support Group, is now available to be taken.

 

2017 Survey Now Open

Adam writes “After the success of previous surveys, and feedback from readers and others, I’m continuing the pattern with another survey this year. The focus for this survey is understanding:

 

     * How HSP affects peoples jobs/occupations

 

     * Pain

 

     * Factors that affect walking

 

     * Wellbeing

 

There are a range of questions for each topic. I have designed the questions for occupation and walking factors. Pain is assessed using the Short Form McGill Pain Questionnaire 2, with extra questions on where the pain is felt and how you treat it. Wellbeing is assessed using the Warwick-Edinburgh Mental Well-being Scale (WEMWBS) for assessing positive mental health and the Patient Health Questionnaire (PHQ2) used as a screening tool for depression.

 

Following previous years, the results will be collected until early 2018, then analysing these in time to publish the results on Rare Disease Day, 28th Feb 2018.

 

As before, all questions are optional (apart from your name and country). If you have taken part in any of these surveys before, please use the same name to allow tracking.

 

Already there have been over 100 responses. Quick highlights:

• 80% consider themselves disabled.
• 80% get pain from HSP.
• 80% cannot walk as far as they want.
• 40% are in work, 30% do not work. (other 30% retired/student/carer).
• People are spending ~25mins to complete the survey

 

Thanks to everyone!

 

SOURCE: http://hspjourney.blogspot.com/2017/09/2017-survey-now-open.html   Tuesday, 12 September 2017

 

Adam Lawrence, Bristol UK

Focus on front to back sway

Using a weighted vest equivalent to 10% of body weight while doing balance training and focusing on the front to back swaying motion when walking, rather than worrying about side to side sway, may be good strategies to improve balance and prevent falls, according to the findings of this study from Korea.

Abstract

The aims of this study were to identify static and dynamic balance with the addition of weighted vests for the rehabilitation of paraplegic patients. The study was conducted using weighted vest exercises with applied optimal weight ratios.

Ten paraplegic patients who use custom orthoses were enrolled for experiments including static standing and dynamic gait with a weighted vest. We set weight ratios as 0%, 10%, and 15% of the patients’ weight. A plantar pressure device was used for static balance tests for excursion and velocity of center of pressure and we identified dynamic balance through the tool of Timed Up and Go (TUG) test.

The results of static and dynamic balance in 0%, 10%, and 15% weight ratios did not have statistically significant differences, but we found an increasing tendency of sway excursion from non-weight (0%) to weight ratios (10%, 15%) in static balance when weight is applied. Sway excursion in antero-posterior direction is greater than medio-lateral sway. In dynamic balance, the TUG results showed a more delayed time when weight ratios were applied.

In conclusion, we have to focus on balance training with antero-posterior direction to upgrade a patient’s balance and prevent falls. Exercises with weighed vests are more useful than non-weighted but there is no difference between 10% and 15% weight ratios. Weighted vest exercises may play a role in the rehabilitation of balance in those with paraplegia.

SOURCE: J Exerc Rehabil. 2017 Jun 30;13(3):348-352. doi: 10.12965/jer.1734984.492. eCollection 2017 Jun. PMID: 28702448

Study of gait using weighted vests on balance with paraplegic patients.

Choi HJ1,2, Kang HJ3.

1 Department of Physical Education, Graduate School, Soonchunhyang University, Asan, Korea.

2 Korea Workers’ Compensation & Welfare Service, Rehabilitation Engineering Research Institute, Incheon, Korea.

3 Department of Sports Medicine, College of Natural Sciences, Soonchunhyang University, Asan, Korea.

Confirms HSP gait as highly variable

 

This study measured a number of gait variables in people with HSP, cerebellar ataxia and Parkinson’s disease and compared them with healthy controls. Despite the significant number of HSPers in the study – 31 – no single variable or any of the variables in combination could distinguish an HSP gait pattern from the other conditions.

 

While this does not rule out gait measurements as a potential tool for evaluating the effect of treatments for HSP by comparing ‘before and after treatment’ measurements on an individual basis, it does highlight the high variability in HSP gait and the challenges that represents in developing gait measurements as a reliable tool.

 

Abstract

Patients with degenerative neurological diseases such as cerebellar ataxia, spastic paraplegia, and Parkinson’s disease often display progressive gait function decline that inexorably impacts their autonomy and quality of life. Therefore, considering the related social and economic costs, one of the most important areas of intervention in neurorehabilitation should be the treatment of gait abnormalities.

 

This study aims to determine whether an entire dataset of gait parameters recorded in patients with degenerative neurological diseases can be clustered into homogeneous groups distinct from each other and from healthy subjects. Patients affected by three different types of primary degenerative neurological diseases were studied. These diseases were: i) cerebellar ataxia (28 patients), ii) hereditary spastic paraplegia (31 patients), and iii) Parkinson’s disease (70 patients). Sixty-five gender-age-matched healthy subjects were enrolled as a control group. An optoelectronic motion analysis system was used to measure time-distance parameters and lower limb joint kinematics during gait in both patients and healthy controls.

 

When clustering single parameters, step width and ankle joint range of motion (RoM) in the sagittal plane differentiated cerebellar ataxia group from the other groups. When clustering sets of two, three, or four parameters, several pairs, triples, and quadruples of clusters differentiated the cerebellar ataxia group from the other groups. Interestingly, the ankle joint RoM parameter was present in 100% of the clusters and the step width in approximately 50% of clusters. In addition, in almost all clusters, patients with cerebellar ataxia showed the lowest ankle joint RoM and the largest step width values compared to healthy controls, patients with hereditary spastic paraplegia, and Parkinson’s disease subjects.

 

This study identified several clusters reflecting specific gait patterns in patients with degenerative neurological diseases. In particular, the specific gait pattern formed by the increased step width, reduced ankle joint RoM, and increased gait variability, can differentiate patients with cerebellar ataxia from healthy subjects and patients with spastic paraplegia or Parkinson’s disease. These abnormal parameters may be adopted as sensitive tools for evaluating the effect of pharmacological and rehabilitative treatments.

 

SOURCE: Hum Mov Sci. 2017 Sep 26. pii: S0167-9457(17)30089-1. doi: 10.1016/j.humov.2017.09.005. [Epub ahead of print] PMID: 28967438

 

Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson’s disease: A non-hierarchical cluster analysis.

 

Serrao M1, Chini G2, Bergantino M3, Sarnari D3, Casali C4, Conte C5, Ranavolo A6, Marcotulli C4, Rinaldi M2, Coppola G7, Bini F3, Pierelli F8, Marinozzi F3.

 

1 Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina 40100, Italy; Movement Analysis LAB, Rehabilitation Centre Policlinico Italia, Piazza del Campidano 6, 00162 Rome, Italy. Electronic address: mariano.serrao@uniroma1.it.

2 Movement Analysis LAB, Rehabilitation Centre Policlinico Italia, Piazza del Campidano 6, 00162 Rome, Italy; Biolab3, Department of Engineering, Roma TRE University, Via Vito Volterra 62, 00149 Roma, Italy.

3 Department of Mechanical and Aerospace Engineering, “Sapienza” University of Rome, Via Eudossiana 18, 00184 Roma, Italy.

4 Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina 40100, Italy.

5 Fondazione Don Gnocchi Foundation, Milan, Italy.

6 INAIL, Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, Via Fontana Candida 1, 00040 Monte Porzio Catone, Italy.

7 G.B. Bietti Foundation-IRCCS, Department of Neurophysiology of Vision and Neurophthalmology, Via Livenza 3, 00198 Rome, Italy.

8 Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina 40100, Italy; IRCCS Neuromed, Pozzilli (IS), Italy.

Children with scissor gait can benefit

 

This study supports the effectiveness of the practice of using serial casting in conjunction with botox for treating spastic paraparesis and cerebral palsy in children, where scissor gait is a problem.

 

Serial casting after botulinum toxin type A treatment can enhance the benefits of the botox in children with scissor gait. Here are good articles on serial casting https://www.childrens.health.qld.gov.au/fact-sheet-serial-casting-lower-limb/ and treatment with botox. https://www.childrens.health.qld.gov.au/fact-sheet-botulinum-toxin-a-treating-spasticity/

 

Abstract

The purpose of this study was to examine whether combination therapy of serial casting and botulinum toxin type A injection can further enhance the effects of botulinum toxin type A in children with cerebral palsy with scissoring of both legs.

 

This study was a prospective and randomized trial. The children were divided into 2 groups, one of which received serial casting after botulinum toxin type A (n = 40), and the other which only received botulinum toxin type A (n = 40). Serial casting started 3 weeks after the botulinum toxin type A. Both groups received physiotherapy.

 

Groups were assessed at baseline, then compared at 6 and 12 weeks following the intervention. Significant improvements in Gross Motor Function Measure-66 and Caregiver Health Questionnaire were recorded in both groups (P < .001).

 

The modified Ashworth scale improved significantly following botulinum toxin type A in the serial casting group (P < .05), but not in botulinum toxin type A only group.

 

These results suggest that serial casting after botulinum toxin type A can enhance the benefits of botulinum toxin type A in children with cerebral palsy.

 

SOURCE: J Child Neurol. 2017 Jun;32(7):671-675. doi: 10.1177/0883073817701526. Epub 2017 Apr 9. PMID: 28393669

 

Serial Casting as an Adjunct to Botulinum Toxin Type A Treatment in Children With Cerebral Palsy and Spastic Paraparesis With Scissoring of the Lower Extremities.

 

Dai AI1, Demiryürek AT2.

 

1 Department of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.

2 Department of Medical Pharmacology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.

Discrimination happening in Australia

 

A parliamentary inquiry is currently underway into Australia’s life insurance industry, which has raised several issues including discrimination by insurers.

According to a team from Monash University, insurers are denying applicants life insurance and raising premiums inappropriately based on genetic test results. They maintain that there is a concerning lack of regulation over the use of genetic information by the Australian life insurance industry. Insurance companies are allowed to use genetic test results to discriminate against applicants for life, permanent disability, and income protection insurance (which all come under the life-insurance product category), with little independent oversight or consumer transparency.

 

This discrimination can deter people from getting genetic tests and being involved in medical research that could prove useful for their future health and scientific understanding of diseases. Although cases of genetic discrimination are difficult to identify, they have been documented in Australia. Under Australian law, life insurance applicants must disclose any known genetic test results if requested by the insurer.

 

This includes results from approved clinical genetic tests, but also less reliable findings from research or direct-to-consumer (DTC) genetic tests, if they are known to the applicant. Direct-to-consumer genetic tests are a new concept whereby consumers have genes tested directly through a private company without medical consultation.

 

According to the Monash investigation, Australian life insurance companies are technically required by law to justify decisions based on genetic results. In practice, however, consumers have no way of requiring insurers to provide information about how decisions are made. The Australian Government leaves the life insurance industry to self-regulate its policy through the Financial Services Council (FSC). This essentially means the insurance industry writes its own rules on the use of genetic data, raising obvious conflicts of interest. Recently the FSC updated its genetic testing policy to suggest that insurance companies ask applicants if they are considering having a genetic test. This is a concerning development, the Monash team say.

 

Many other countries have protected consumers by restricting or banning the use of genetic information for insurance altogether, including the UK, Belgium, Austria, Denmark, France, Germany, Lithuania, Norway, Portugal, Canada and Sweden. In Australia, the situation is very different. Patients considering predictive or family-based clinical genetic testing are frequently advised to review their life insurance situation prior to taking the test, due to the obligation to disclose results to insurers.

 

The fear of unknown insurance implications deters some of these people from having this testing. This can sometimes mean passing up critical information that can be used to help prevent cancers and other serious diseases. For example, one study looked at patients at risk of bowel cancer due to family history. It found more than double the patients, who had been advised of the possible effect of having a positive test on their insurance claim, declined testing compared with patients who had not been advised of this possible effect.

 

SOURCE: Originally published in The Conversation Posted Fri at 3:11am

 

You can be denied life insurance based on genetic tests — and there’s little protection

 

By Jane Tiller and Paul Lacaze, Monash University

See the full story: http://www.abc.net.au/news/2017-08-25/genetic-testing-can-mean-you-are-denied-life-insurance/8843596

 

Three young HSPers making a difference

 

HSP cyclist raises adaptive sports awareness

 

July 15, 2017

The leader of the expedition, Owen Anketell, from Hudson, Massachusetts in the USA was operating a handcycle, while his two friends were on bicycles. Anketell has a condition called hereditary spastic paraplegia, which means the muscles in his legs aren’t strong enough to support him. He uses crutches and a wheelchair to get around most of the time. But that hasn’t stopped him. He not only cycles on a handcycle but also skis, water-skis, golfs and plays tennis.

 

“This summer I’m going to be biking from Calais, Maine, to Key West, Fla., to raise awareness for adaptive sports,” Owen said. “I wanted to go out and do this ride to show people and help everyone else that faces the problems with being disabled and thinking they can’t go out and do everything everyone else is doing, because there’s ways to adapt it to make everything possible.”

 

Anketell said he wants to bring attention to the fact that sports participation is possible for people with a wide range of disabilities. “I think it’s a great way to do it just to show people I’m out there doing it right now,” he said. He’s been stopping along the way to speak at hospitals and other groups about adaptive sports. “Whether I’m talking with people that are disabled or people that aren’t, they can get out there and have the experience of a lifetime,” Anketell said.

 

He said he hopes a lot of people learn about adaptive sports as a result of his journey down the coast. “There’s a way to adapt for anyone in any situation,” he said. “You’ve just got to find the right people to help you get there. Anything’s possible.”

 

SOURCE: Suffolk News-Herald. Published Saturday, July 15, 2017

By Tracy Agnew

See article here: http://www.suffolknewsherald.com/2017/07/15/cyclists-raise-adaptive-sports-awareness/

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HSP Skateboarder competing and inspiring others

 

Shane Brigham is 24 years old and has been skateboarding for half his life. He is using his disability and talent to inspire others.

 

Powerful, charismatic, full of energy and positive are just a few words Shane’s friends use to describe him.

While some could let a disability slow them down or even define them, Shane Brigham has spent his life inspiring others. Shane was born with hereditary spastic paraplegia but he hasn’t let that stop him from following his dream.

 

Click the link at the bottom to watch the video.

 

SOURCE: 9&10 News Posted: Jul 14, 2017

 

By Whitney Amann, Reporter

 

See TV news story here, including video of Shane skateboarding: http://www.9and10news.com/story/35891218/traverse-city-skateboarder-competing-in-california-and-inspiring-others

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Teen race car driver: ‘My disability doesn’t limit me’

 

MASON, MI – In the Parishes’ family business, a quarter of a pound of tire pressure can mean the difference between winning and losing.

.

That’s why Jeff Parish found himself leaning down on the concrete on an unseasonably warm spring afternoon to let air out of the left front tire of his son’s No. 36 bandolero race car. On-the-fly adjustments are part of the Friday night experience in the pits at Spartan Speedway, and Jon Parish is always looking for an edge.

 

Something must be working. In his short three-year career, the 13-year-old from Springport has won 11 feature races, including the 2015 Bandoleros Junior Bandit Division Championship. His $7,000 bandolero car looks like a go-kart and sounds like a lawn mower. Bandoleros are beginner cars for youth ages 8 to 14. Traditionally, they are the first car a driver ever races.

But don’t let the delicate reverberation of his engine fool you. Parish gets his car up to 70 miles per hour on the back stretch. He also made the rapid ascent to the senior division, which means he no longer has a restrictor plate in his car that impedes it from going faster than 50 miles per hour.

Competing is in his blood. His dad was a driver. Two of his older brothers have also gotten behind the wheel.

Unfortunately, the comparisons don’t end there. Four of the five Parish boys share a hereditary disorder that causes their lower limbs to progressively grow weaker. It’s called hereditary spastic paraplegia.

His determination to live a normal life is so evident that he doesn’t even know what the initials of his disorder stand for, interrupting his father to ask.

“My disability doesn’t limit me,” Parish said. “It gets progressively worse, but it will only get worse if you get lazy and give up. I maintain an exercise program and do therapy. I push through.”

Zach Parish, 15, is Jon’s older brother and a former driver. Today, he is rolling through the pits in a royal blue wheel chair with a matching shirt featuring his school mascot and a fedora on his head. He is an honors student at Springport High School. His father quipped that he’s “the brains of the operation.”

Zach Parish, whose hereditary spastic paraplegia has been more aggressive than Jon’s, finished the 2015 season second on the senior leaderboard at Spartan. For most, that would be a successful campaign.

They put him in a pair of casts to straighten his feet to attempt to make him walk normally. The hospital put him through a rigorous regimen of therapy and workouts to ensure that he would not have to use a wheelchair anytime soon.

“The more I do, the longer I hold this thing off,” he said of his weakened legs. “I am not going to let this get in the way of my dreams.”

 

SOURCE: Lansing State Journal   Published May 30, 2017

by Cody J Tucker

See article here: http://www.lansingstatejournal.com/story/sports/2017/05/30/jon-parishs-legs-getting-weaker-but-he-sure-can-race/339073001/

 

 

Linked to walking ability and energy expenditure

 

Simultaneous contractions of the muscles surrounding both the knee and ankle joints during walking is identified as the specific abnormality causing HSP gait in this Italian study of 23 HSPers and 23 non-HSP people (controls). Measures of these contractions taken during all phases of walking correlate with clinical measures of spasticity.

 

The greater these simultaneous contractions, the greater the energy expended through walking, which correlates with:

• slower walking pace and distance

• greater fatigue and

• slower recovery after walking.

 

Abstract

BACKGROUND:

The aim of this study was to investigate the lower limb muscle co-activation and its relationship with muscle spasticity, gait performance, and metabolic cost in patients with hereditary spastic paraparesis.

 

METHODS:

Kinematic, kinetic, electromyographic and energetic parameters of 23 patients and 23 controls were evaluated by computerized gait analysis system. We computed ankle and knee antagonist muscle co-activation indexes throughout the gait cycle and during the sub-phases of gait. Energy consumption and energy recovery were measured as well. In addition to the correlation analysis between co-activation indexes and clinical variables, correlations between co-activation indexes and time-distance, kinematic, kinetic, and energetic parameters were estimated.

 

FINDINGS:

Increased co-activity indexes of both knee and ankle muscles throughout the gait cycle and during the sub-phases of gait were observed in patients compared with controls. Energetic parameters were significantly higher in patients than in controls. Both knee and ankle muscle co-activation indexes were positively correlated with knee and ankle spasticity (Ashworth score), respectively. Knee and ankle muscle co-activation indexes were both positively correlated with energy consumption and both negatively correlated with energy recovery.

 

INTERPRETATION:

Positive correlations between the Ashworth score and lower limb muscle co-activation suggest that abnormal lower limb muscle co-activation in patients with hereditary spastic paraparesis reflects a primary deficit linked to lower limb spasticity. Furthermore, these abnormalities influence the energetic mechanisms during walking. Identifying excessive muscle co-activation may be helpful in individuating the rehabilitative treatments and designing specific orthoses to restrain spasticity.

 

 

SOURCE: Clin Biomech (Bristol, Avon). 2017 Jul 29;48:63-72. doi: 10.1016/j.clinbiomech.2017.07.013. [Epub ahead of print] Copyright © 2017 Elsevier Ltd. All rights reserved. PMID: 28779695

 

Increased lower limb muscle co-activation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis.

 

Rinaldi M1, Ranavolo A2, Conforto S3, Martino G4, Draicchio F2, Conte C5, Varrecchia T6, Bini F7, Casali C8, Pierelli F9, Serrao M10.

 

1 Department of Engineering, Roma TRE University, Via Ostiense 159, 00154 Rome, Italy; Rehabilitation Centre, Policlinico Italia, Piazza del Campidano 6, 00162 Rome, Italy. Electronic address: martina.rinaldi@uniroma3.it.

2 Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Via Fontana Candida 1, 00078 Monte Porzio Catone, Rome, Italy.

3 Department of Engineering, Roma TRE University, Via Ostiense 159, 00154 Rome, Italy. Electronic address: silvia.conforto@uniroma3.it.

4 Centre of Space Bio-Medicine, University of Rome Tor Vergata, Via Orazio Raimondo 18, 00173 Rome, Italy; Laboratory of Neuromotor Physiology, Istituto Di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, Italy. Electronic address: g.martino@hsantalucia.it.

5 Fondazione Don Gnocchi, Piazzale Morandi 6, 20121 Milan, Italy.

6 Department of Engineering, Roma TRE University, Via Ostiense 159, 00154 Rome, Italy; Rehabilitation Centre, Policlinico Italia, Piazza del Campidano 6, 00162 Rome, Italy.

7 Department of Mechanical and Aerospace Engineering, Mechanical & Thermal Measurement Lab, University of Rome Sapienza, Via Eudossiana 18, 00184 Rome, Italy. Electronic address: fabiano.bini@uniroma1.it.

8 Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Via Faggiana 34, 04100 Latina, Italy. Electronic address: carlo.casali@uniroma1.it.

9 Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Via Faggiana 34, 04100 Latina, Italy. Electronic address: francesco.pierelli@uniroma1.it.

10 Rehabilitation Centre, Policlinico Italia, Piazza del Campidano 6, 00162 Rome, Italy; Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Via Faggiana 34, 04100 Latina, Italy.