The Berkeley, Calif., warehouse is the home of Ekso Bionics (formerly known as Berkeley Bionics), a young ­company that’s about to step out onto the world stage. Early this year the company will begin selling its Ekso suit to rehab clinics in the United States and Europe, to allow patients with spinal cord injuries to train with the device under a doctor’s supervision. By the middle of 2012, the company plans to have a model for at-home physical therapy.

User Tamara Mena, who was paralyzed in 2005, gleefully puts her exoskeleton walking suit through its paces.

When you don the Ekso, you are essentially strapping yourself to a sophisticated robot. It supports its own 20-kilogram weight via the skeletal legs and footrests and takes care of the calculations needed for each step. Your job is to balance your upper body, shifting your weight as you plant a walking stick on the right; your physical therapist will then use a remote control to signal the left leg to step forward. In a later model the walking sticks will have motion sensors that communicate with the legs, allowing the user to take complete control.

“We took the idea of the external skele­ton, and we added nerves in the form of sensors and motors that represent your muscles and computers that represent your brain,” says Eythor Bender, CEO of Ekso Bionics.

The company began its evolution in 2005 with the ExoHiker, an exoskeleton that allows able-bodied people to carry 90 kg (about 200 pounds) with minimal exertion. The company’s engineers at first thought it would take 5 kilowatts to power such an exoskeleton, which would have meant bulky batteries and motors. The breakthrough was a redistribution of weight that reduced the power requirements by three orders of magnitude. A later system, the load-carrying HULC (Human Universal Load Carrier), was licensed to Lockheed Martin Corp. for military development in 2009, and Ekso Bionics’ engineers began looking for a new direction. Their energy-efficient devices, they realized, left them with a “power budget” that could be spent on moving the user’s legs. That’s when paraplegic people became the company’s target customers.

A few other companies around the world are bringing out exoskeletons for people with disabilities, but Ekso Bionics’ push in 2012 may give it a market advantage. Ten top U.S. rehab clinics have already signed up for the first batch of production units.

One of the first devices will go to Mount Sinai Hospital, in New York City, where Kristjan T. Ragnarsson, chairman of the department of rehabilitation medicine, has treated spinal cord patients for 40 years. His patients’ priorities have never changed. “The first thing they want to know is whether they will walk again,” says Ragnarsson. “As their physician, I always have to address that question.”

Over the years he has told his patients about the latest inventions, from stiff air-filled garments to devices that electrically stimulate the muscles, but all these contraptions proved too difficult for the patients to operate. “They were completely exhausted after just a few steps,” he says.

Ragnarsson thinks the Ekso can succeed where so many others failed, because the powered device does most of the labor for the patient. “I’m optimistic, actually, that this will work,” he says. “I think my patients will be able to stand up and take a few steps and face the next person directly on!”

For a week in August, Myles Cook, 16, and his mother, Glenda, will travel to Kiev, Ukraine, to visit the EmCell Clinic for a treatment that isn’t available in the United States — stem cell therapy.

In stem cell treatments, the cells go to work to build and repair a damaged body. The treatments are noninvasive and do not require any immune-suppressing medicine.

“There haven’t been any naysayers in the community,” Glenda Cook said. “The community is supporting his decision.”

Duchenne muscular dystrophy is a degenerative muscle disease that causes difficulty breathing and walking. It’s the most common, and most fatal, form of muscular dystrophy. It affects 1 in 3,500 male children.

His treatment now includes steroid therapy two to three times a day, good nutrition and a good attitude. However, steroid therapy comes with side effects. Myles and his mother noticed that children taking the therapy were sluggish and heavy after starting the treatment.

“We didn’t see the plus side of the steroid therapy,” she said.

Through researching his disease, Myles found the clinic and the possibility of prolonging his life.

“The pros of the (stem cell) treatment are no cancer cells, some mobility gained and little to no side-effects,” Myles said. “The con is a big risk with maybe no reward.”

Joe Maerzke, the EmCell liaison between the Cook family and the clinic, said the stem cell treatments are natural and generative medicine.

Once the family sent over Myles’ medical records, the clinic accepted him and believed he would benefit from the stem cell therapy. In an attempt to raise awareness of the disease and the clinic, Myles will become a goodwill ambassador when he gets back home.

“I’m excited about that, but also nervous at the same time,” Myles said.

In school, Myles excels in his classes and he tries to live the life of a normal teenager.

Being confined to a wheelchair puts a strain on where he can go and who he can go out with.

“It’s just a hassle to hang out with friends,” Myles said.

So far, the community of 400 residents has raised about $5,000 for the family, and another $15,000 is needed for the trip.

The Cooks plan to hold a golf tournament Labor Day weekend and a Russian dinner in October, with details still being worked out.

In the meantime, Myles keeps up his fight against a disease that, on average, claims those afflicted with it by their middle to late 20s.

“Myles has a lot more fight in him,” his mother says.

The promising results indicate that a simple, daily pill to treat all patients with Duchenne muscular dystrophy should be possible, whether or not this specific drug formulation makes it all the way through clinical trials without further development.

The study, led by researchers at Oxford University, the University of Bari in Italy and Summit plc with funding from the Muscular Dystrophy Campaign and the Medical Research Council, is published in the journal PLoS ONE.

‘We’ve shown that the drug can dramatically reduce muscle weakness in mice. These results give us everything we need to go forward into initial clinical trials in humans,’ says Professor Dame Kay Davies of the Department of Physiology, Anatomy and Genetics at Oxford University, who led the research.

Duchenne muscular dystrophy affects about 100 boys born in the UK each year, or around 1 in every 3,500 male births.

The disease involves a progressive muscle weakness, with the first signs of difficulty in walking seen between the ages of 1 and 3. Boys with the condition are likely to be in a wheelchair by age 12 and live into their twenties or thirties.

The condition is caused by problems in a gene on the X chromosome for a protein called dystrophin that’s found in muscle fibres. The result is that muscle cells break down and the muscle fibres themselves are gradually lost.

There are no effective treatments for the disease. Steroids and growth hormones are used to manage the condition.

Novel genetics-based approaches to correct readout of the dystrophin gene are in clinical trials. But depending on each patient’s particular genetic changes, any one treatment is only likely to be effective for perhaps 15% of patients.

The current study reports a significant step in the search for a simple, conventional oral pill to be taken daily that would be effective for all patients. Rather than concentrate on the problems in dystrophin, this alternative approach focuses on a related protein called utrophin.

Previous work by Professor Kay Davies’ group in Oxford showed that increasing the amount of utrophin in muscle cells could help compensate for the lack of a functioning dystrophin protein in a proof-of-principle study in mice.

The Oxford team then developed a lab test that could detect increased production of utrophin in human muscle cells.

This allowed a UK-based biotechnology company, Summit plc, to use the test to screen a huge number of drug compounds for any that could increase levels of utrophin. They have now identified the most promising of these compounds, currently named SMT C1100.

The new publication reports the work of three independent groups – in Oxford, Italy and the US – to determine the effectiveness of the drug in mouse models of Duchenne muscular dystrophy.

The three groups all found that daily doses of the drug had a protective effect against the progressive muscle weakness that is characteristic of the disease.

The mouse models for the disease receiving the drug could run 50% further in exercise tasks similar to the six-minute-walk test used as a standard measure in human patients. In combination with a steroid, the mice showed no fatigue in these tests at all.

‘These are the most stringent tests we have and mean that there is more chance of achieving the same benefits in humans,’ says Professor Davies.

These results have seen the drug SMT C1100 move into early-stage clinical trials in humans.

Preliminary results from a phase I trial among a small number of healthy volunteers suggest that the drug in its current formulation is not consistently present at high enough levels in the blood. However, most drug candidates need reformulating and optimising after initial discovery, and the intention is to pursue this with SMT C1100.

‘The results are sufficiently exciting to do further human trials with improved formulations of SMT C1100 and to look for follow-on compounds that could prove superior in the long term,’ says Professor Davies.

Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign, says: ‘The Muscular Dystrophy Campaign has supported this line of research in Professor Davies’ lab from the start and it is fantastic that it is now coming to fruition. Many of the treatments currently being developed are very personalised and can only be used for a subset of patients. However, this approach of raising the activity of the utrophin gene could potentially be of significant benefit to all individuals with Duchenne and Becker muscular dystrophy. This would be a huge advantage and we look forward to hearing how well an improved formulation of the SMT C1100 drug does in the next clinical trial.’

Professor Max Parmar, Director of the Medical Research Council’s Clinical Trials Unit, says: ‘This is a great example of Medical Research Council support for basic research, which could soon lead to a real public health benefit. This study, without necessarily providing us with the final solution, does give us an important platform from which to move forward and really make a serious progression through clinical trials. This is a vital part of the drug discovery process.

In Malta, only one couple with severe disabilities is married and lives independently. Husband and wife, both Muscular Dystrophy sufferers, with barely any mobility, want to serve as role models for others in similar situations and are proof that romance and disability are not incompatible.

The March issue of Pink, which is out with The Times tomorrow, discovers how couples with physical and intellectual disability manage to develop their intimate relationships and express their feelings of love, despite their limitations.

Not even their wheelchairs can keep them apart and they have accepted to share their matrimonial bed with respiratory machines, needing someone to place their hands on each other and having a hard time to kiss on their wedding day.

These and other lovebirds have chosen to open up about their right to a relationship and their emotional and sexual needs, which are no different from anyone else’s.

International Women’s Day has been done – and overdone – this month. But for Pink, which has always highlighted female issues, every edition marks it. Whether it is a woman’s world is the burning question, especially in the aftermath of revolutionary uprisings, which are supposed to bring about change and freedom.

After the US-led invasion, Iraqi females are still being oppressed. They tell Pink they have lost their basic freedoms and are forced to cover up, fearing sexual violence that is keeping professionals in their homes and away from work.

Look out for a burst of floral fashion, loads of beauty tips from various angles and the usual regulars on food, fitness, psychology, books, cars, homes, history and humour.

Published by Allied Newspapers Ltd and printed by Progress Press, Pink is produced by Mediamaker. Its executive editor is Fiona Galea Debono and it is designed by Helen Cassar Torreggiani and Joseph Schembri.

Source

DM1 is the classic muscular dystrophy that is also known as Steinert disease. It is due to a mutation in the dystrophia myotonica protein kinase (DMPK) gene located at the long arm of chromosome 19. DM2, also called proximal myotonic myopathy, is due to a mutation in the zinc finger protein 9 (ZNF9) gene located at the long arm of chromosome 3. Both types of myotonic muscular dystrophy are autosomal dominant disorders. This means that one copy of a mutated gene in either parent is enough to cause the disorder in all of their children.

Myotonic muscular dystrophy often presents in adulthood and less commonly in late childhood. Distal limb muscles and neck muscles are involved early in the course, resulting in abnormalities in gait, foot drop, and swallowing difficulty. A person with myotonic muscular dystrophy may also experience weakness of facial muscles leading to the typical hatchet-faced appearance; weakness of muscles in wrists, fingers, and hands leading to impairment of normal daily function; and weakness of respiratory muscles affecting breathing and lung function. Constipation or diarrhea may occur because of weakness of the digestive tract muscles, and fainting or dizziness may occur because of weakness of heart muscles. Other abnormalities found in affected individuals are speech and voice problems, frontal balding, infertility, intellectual impairment, eye lenses clouding, insulin resistance, and excessive daytime sleepiness.

Heart disturbances, such as heart block and mitral valve prolapse, more commonly occur in DM1 than in DM2. A more severe form of DM1 occurs in approximately 25% of infants of affected mothers. This is known as congenital myotonic dystrophy and is characterized by severe muscle weakness, mental retardation, and difficulty in breathing, sucking, and swallowing. DM2 affects mainly the muscles near the center of the body. Heart disturbances, hatchet face, and frontal balding occurrences are uncommon.

Diagnosis of myotonic muscular dystrophy is usually established through history and physical examination. The doctor might request for electromyogram and muscle biopsy. Electromyogram involves measurement of the electrical activity of muscles. Muscle biopsy involves the surgical removal of a small piece of muscle for microscopic examination.

Treatment goals are to minimize disability as well as relieve symptoms and discomfort. Phenytoin and mexiletene are the preferred antimyotonia drugs. Cardiac pacemakers and cataract surgery should be considered for patients with heart disturbances and cloudy lens of the eyes, respectively. Use of walking assistive devices such as canes, walkers, and molded ankle-foot orthoses may help in mobility and gait problems. Sleep studies may be beneficial to prevent excessive daytime sleepiness.

Engineer Chris Cook, 50, of Twyncarn Road, Pontywaun put his career on hold for 18 years after James was diagnosed with muscular dystrophy, aged six, 22 years ago.

Mr Cook and wife Linda, 50, both quit work to become full-time carers and he described how they “went through hell”, but were able to look after James at home.

The couple have launched company Linchris, where Mr Cook will use his engineering skills to fit and repair stairlifts, mobility scooters and wheelchairs while they will give advice to carers and parents on coping.

James was diagnosed with muscular dystrophy aged six in 1989 and deteriorated until he was in a wheelchair at nine.

While doctors told his parents his life-expectancy was 15, he lived until he was 23, attending Newbridge Comprehensive.

Mr Cook said: “Sufferers become like quadraplegics and can’t even scratch their noses as their muscles waste.

“We lived it 24/7 with James and went through all the emotions. You put up with it because it’s your son, becoming stronger and just learn to cope.”

While caring for James, Mr Cook helped found the charity, Gwent Remap, which customises mobility equipment for disabled people.

He returned to work as an engineer after James died in 2007, but after being laid off last year, decided to work in this area full-time.

With help from Linda and other son Scott, 23, Mr Cook set up Linchris, using £500 from the Community Business Support Fund last year.

As well as fitting and adapting mobility equipment, Mr Cook is also on call 24 hours to help with problems. He added: “I have even been called into the pub to fix a wheelchair that broke down.”

For details, visit linchrismobility.co.uk

Among the known genetic diseases that affect human beings, muscular dystrophy is the one that affects the most capabilities required for a dignified life. There are many others like Devang who have been hit by this disease.

At present muscular dystrophies are catalogued as nine types, and some of these simultaneously into other sub-types. Each of these types and sub-types have different genetic origins caused by mutations that result in the total absence, loss, or deficiency of some of the proteins necessary for muscular function, which in turn leads to a deterioration and breakdown of the muscular tissue. The form in which this deterioration is developed, its severity, and the time in which symptoms appear varies according to each type and sub-type.

Talking to TOI, father of Devang and an orthopaedic surgeon, Dr A K Agarwal said, “At the moment, a cure or effective treatment to stop or to reverse its (muscular dystrophy) development does not exist, nevertheless there does exist a series of palliative treatments that can improve some of the symptoms, at least in some small degree, or diminish some of the inevitable advances of the disease.”

“As a whole, these types of dystrophies affect humans at all stages of life: Childhood, adolescence, and adulthood, as well as both sexes. Their effects can go from gradual loss of mobility and independence, to severe incapacity and death in the most severe types like `DM Duchenne’ type, which causes death when a person reaches their 20s,” he added.

Notably, the occurrence of muscular dystrophy is worldwide, and there is no country or zone on earth where people are not affected by some or other type of muscular dystrophy. In general, it has an incidence of close to 1 in every 2,000 births. In individuals, the incidence of two of the more common types of muscular dystrophy, `Myotonic MD’ (the most common adult form) is 1 in every 10,000 births (both sexes), and in `Duchenne MD’ (the most common childhood form and the most severe) 1 in every 3,500 males born.

Although, muscular dystrophies as a whole have a greater incidence than other more recognisable genetic diseases. Patients of muscular dystrophy have always been marginalized culturally and socially in most countries, primarily in those that are underdeveloped.

“The information available on the disease is insufficient and there is hardly any dissemination of this information. For this reason, most people are not aware of the differences among dystrophy types, its development, evolution, life expectancies, or how it is inherited, as well as how to manage and care for it. Several affected people have seen their quality of life getting diminished and they also suffer from complications that can lead to death due to ignorance and lack of information, which is very widespread at both the public and medical level,” informed Dr Agarwal further.

Pointedly, a majority of the people affected by muscular dystrophy, who live in developing countries, do not have access to advanced tests or diagnosis, which would allow them to know the specific type of muscular dystrophy they have, and thus know ow what the future holds for them and the risk of passing the disease on to their children. Unfortunately, the disease has no cure which leads to mental trauma in a patient. But medical experts and doctors say that if the diseased person is given special care and attention, he/she can have an increased life expectancy.

Dr A K Batheja, secretary, Kanpur Orthopaedic Association, said, “Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.”

The experiments showed that when young host mice with limb muscle injuries were injected with muscle stem cells from young donor mice, the cells not only repaired the injury within days, they caused the treated muscle to double in mass and sustain itself through the lifetime of the transplanted mice. “This was a very exciting and unexpected result,” said Professor Bradley Olwin of CU-Boulder’s molecular, cellular and developmental biology department, the study’s corresponding author.

Muscle stem cells are found within populations of “satellite” cells located between muscle fibers and surrounding connective tissue and are responsible for the repair and maintenance of skeletal muscles, said Olwin. The researchers transplanted between 10 and 50 stem cells along with attached myofibers — which are individual skeletal muscle cells — from the donor mice into the host mice.

“We found that the transplanted stem cells are permanently altered and reduce the aging of the transplanted muscle, maintaining strength and mass,” said Olwin.

A paper on the subject was published in the Nov. 10 issue of Science Translational Medicine. Co-authors on the study included former CU-Boulder postdoctoral fellow John K. Hall, now at the University of Washington Medical School in Seattle, as well as Glen Banks and Jeffrey Chamberlain of the University of Washington Medical School.

Olwin said the new findings, while intriguing, are only the first in discovering how such research might someday be applicable to human health. “With further research we may one day be able to greatly resist the loss of muscle mass, size and strength in humans that accompanies aging, as well as chronic degenerative diseases like muscular dystrophy.”

Stem cells are distinguished by their ability to renew themselves through cell division and differentiate into specialized cell types. In healthy skeletal muscle tissue, the population of satellite stem cells is constantly maintained, said Olwin.

“In this study, the hallmarks we see with the aging of muscles just weren’t occurring,” said Olwin. “The transplanted material seemed to kick the stem cells to a high gear for self-renewal, essentially taking over the production of muscle cells. But the team found that when transplanted stem cells and associated myofibers were injected to healthy mouse limb muscles, there was no discernable evidence for muscle mass growth.

“The environment that the stem cells are injected into is very important, because when it tells the cells there is an injury, they respond in a unique way,” he said. “We don’t yet know why the cells we transplanted are not responding to the environment around them in the way that the cells that are already there respond. It’s fascinating, and something we need to understand.”

At the onset of the experiments the research team thought the increase in muscle mass of the transplanted mice with injured legs would dissipate within a few months. Instead, the cells underwent a 50 percent increase in mass and a 170 percent increase in size and remained elevated through the lifetime of the mice — roughly two years, said Olwin.

In the experiments, stem cells and myofibers were removed from three-month-old mice, briefly cultured and then transplanted into three-month-old mice that had temporarily induced leg muscle injuries produced by barium chloride injections. “When the muscles were examined two years later, we found the procedure permanently changed the transplanted cells, making them resistant to the aging process in the muscle,” he said.

“This suggests a tremendous expansion of those stem cells after transplantation,” Olwin said. Fortunately, the research team saw no increase in tumors in the transplanted mice despite the rapid, increased growth and production of muscle stem cells.

As part of the research effort, the team used green fluorescent protein — which glows under ultraviolet light — to flag donor cells in the injected mice. The experiment indicated many of the transplanted cells were repeatedly fused to myofibers, and that there was a large increase in the number of satellite cells in the host mice.

“We expected the cells to go in, repopulate and repair damaged muscle and to dissipate,” Olwin said. “It was quite surprising when they did not.

“It is our hope that we can someday identify small molecules or combinations of small molecules that could be applied to endogenous muscle stem cells of humans to mimic the behavior of transplanted cells,” Olwin said. “This would remove the need for cell transplants altogether, reducing the risk and complexity of treatments.”

But Olwin said it is important to remember that the team did not transplant young cells into old muscles, but rather transplanted young cells into young muscles.

The research has implications for a number of human diseases, Olwin said. In muscular dystrophy, for example, there is a loss of a protein called dystrophin that causes the muscle to literally tear itself apart and cannot be repaired without cell-based intervention. Although injected cells will repair the muscle fibers, maintaining the muscle fibers requires additional cell injections, he said.

“Progressive muscle loss occurs in a number of neuromuscular diseases and in muscular dystrophies,” he said. “Augmenting a patient’s muscle regenerative process could have a significant impact on aging and diseases, improving the quality of life and possibly improving mobility.”

Olwin said the research team is beginning experiments to see if transplanting muscle stem cells from humans or large animals into mice will have the same effects as those observed in the recent mouse experiments. “If those experiments produce positive results, it would suggest that transplanting human muscle stem cells is feasible,” he said.

The research was funded in part by the National Institutes of Health and the Muscular Dystrophy Association.

Contact

Bradley Olwin, 303-492-6816
Bradley.Olwin@colorado.edu
Jim Scott, 303-492-3114
Jim.Scott@colorado.edu

Staff Writer Suzanne Hodgson can be reached at 282-4337, ext. 233.

Source: blog.kennebunkpost.com

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