I found this on the AsiaOne site and am attaching it below for reference. It seems that limb-girdle muscular dystrophy is rarely encountered in Singapore as compared to the more common Duchenne Muscular Dystrophy. See the article below:
THERE are roughly 20 varieties of limb-girdle muscular dystrophy (LGMD), and each type is caused by a different gene.
In each case, however, the muscles around the shoulder and hip areas weaken over time. Typically, the legs are affected first.
LGMD is rarely encountered in Singapore. The most common type of muscular dystrophy is Duchenne muscular dystrophy, which usually affects only males. However, the advent of technology means that people with muscular dystrophy have benefited from increased employment opportunities in the information-technology sector.
The Muscular Dystrophy Association Singapore (MDAS) is a voluntary welfare organisation that conducts workshops and internships that will eventually lead to gainful employment.
Located in Bishan, it operates Biz-Power, a programme that is designed to teach members technical knowledge, craft-making skills and software skills such as the use of Flash and Photoshop.
Nine members work on IT and web-design projects for clients, which are typically small and medium-sized enterprises.
Founded in 2000, MDAS is managed by a group of individuals, including health-care professionals, people with muscular dystrophy, their family members and members of the public.
MDAS currently has 103 members, and Singapore Paralympic swimmer Yip Pin Xiu is set to join its ranks soon. The youngest member is nine months old and the oldest is over 50.
Read Related Articles:
1. Gene Therapy for Muscular Dystrophy
2. Muscular Dystrophy Association
3. Congenital Muscular Dystrophy
Sunday, November 29, 2009
Wednesday, November 25, 2009
Stretching for Duchenne Muscular Dystrophy
This is a video clip on stretching exercises that are useful for people suffering from duchenne muscular dystrophy
Monday, November 23, 2009
Symptoms of Duchenne Muscular dystrophy
Here are some of the symptoms of Duchenne Muscular Dystrophy
1. Progressive muscle weakness. Particulary the voluntary muscles of the pelvis and calf. Other muscles also will be affected. Calf "muscles" look big but they are actually fats which has replaced the muscles.
2. Difficulty with motor skills.
3. Awkward walking, stepping or running. Eventual loss of walking ability by age 12.
4. Skeletal deformities.
5. Frequent falls.
1. Progressive muscle weakness. Particulary the voluntary muscles of the pelvis and calf. Other muscles also will be affected. Calf "muscles" look big but they are actually fats which has replaced the muscles.
2. Difficulty with motor skills.
3. Awkward walking, stepping or running. Eventual loss of walking ability by age 12.
4. Skeletal deformities.
5. Frequent falls.
Friday, November 20, 2009
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy or CMD is used to descibed muscular dystrohy that is present at birth. Infants with such disease often appear "floppy" with little muscle tone and contractures.
Certain forms of CMD do not affect the lifespan of the individual. It is generally used to describe a number of autosomal recessive diseases that are present at birth and can slowly progress and worsen through life. While the weakening of the muscle could stabilise over time, the complications from it usually worsens over time.
CMD can be diagnosed through the following methods:
1. Muscle biopsy
2. Serum creatine kinase concentration
3. Immunostaining of muscle
4. Brain MRI
5. Genetic Testing
As CMD is basically caused by genetics where one inherits the genes from the parents. As the gene is recessive, the parents could have just been carriers and not sufferers of the disease. A wide range of genetic counselling is also available to tell parents of children who suffer from CMD how likely it is that another child would suffer from it.
There is currently no cure for CMD and the treatment available are limited to physical and occupational therapy.
Certain forms of CMD do not affect the lifespan of the individual. It is generally used to describe a number of autosomal recessive diseases that are present at birth and can slowly progress and worsen through life. While the weakening of the muscle could stabilise over time, the complications from it usually worsens over time.
CMD can be diagnosed through the following methods:
1. Muscle biopsy
2. Serum creatine kinase concentration
3. Immunostaining of muscle
4. Brain MRI
5. Genetic Testing
As CMD is basically caused by genetics where one inherits the genes from the parents. As the gene is recessive, the parents could have just been carriers and not sufferers of the disease. A wide range of genetic counselling is also available to tell parents of children who suffer from CMD how likely it is that another child would suffer from it.
There is currently no cure for CMD and the treatment available are limited to physical and occupational therapy.
Thursday, November 12, 2009
Muscular Dystrophy Association
In various countries, there are associations that have been specifically established to cater to the needs of patients who suffer from muscular dystrophy. These associations organise fund raising activities and often involve volunteers who help to run some of the programmes.
Examples of support that you can find at these associations are:
1. Medical Education Programme. This normally provides updated medical information on muscular dystrophy and teaches caregivers with therapy and home care skills.
2. Family Connects. Connecting with other families who share the same experiences so as to learn from one another. More experienced families are also able to support those who are still unfamiliar with caring for a family member who has been diagnosed with the disease.
3. Counselling. Helps family members and patients deal with grief, anger, uncertainties and depression.
4. Information, Resources and referrals. Serves as a knowledge repository on best practices and lastest information.
Some of the services provided by such associations also include education programmes specifically suited for patients, transportation services as well as subsidised medical equipment. Associations for Muscular Dystrophy serve the communities' specific needs and purposes. When one is suffering from muscular dystrophy, it is best for the family member and patient to join such an association to find the support and help that they need.
Examples of support that you can find at these associations are:
1. Medical Education Programme. This normally provides updated medical information on muscular dystrophy and teaches caregivers with therapy and home care skills.
2. Family Connects. Connecting with other families who share the same experiences so as to learn from one another. More experienced families are also able to support those who are still unfamiliar with caring for a family member who has been diagnosed with the disease.
3. Counselling. Helps family members and patients deal with grief, anger, uncertainties and depression.
4. Information, Resources and referrals. Serves as a knowledge repository on best practices and lastest information.
Some of the services provided by such associations also include education programmes specifically suited for patients, transportation services as well as subsidised medical equipment. Associations for Muscular Dystrophy serve the communities' specific needs and purposes. When one is suffering from muscular dystrophy, it is best for the family member and patient to join such an association to find the support and help that they need.
Wednesday, November 11, 2009
Gene Therapy Treatment for Muscular Dystrophy
I just read a news article on a supposed gene therapy treatment that will potentially be used to treat muscular dystrophy. So far, the treatment has only be tested in a study on monkeys where the gene therapy was used to modify the body's natural regulation of muscle growth. Clinical trials will be expected to start in 2010. You can read the entire article pasted down below:
A gene therapy that increases the size and strength of muscle tissue could soon be used to treat neuromuscular disorders such as muscular dystrophy, according to scientists.
In a study on monkeys, the treatment, which modifies the body’s natural regulation of muscle growth, was found to have long-lasting effects on muscle mass and tone.
The treatment produced no obvious negative side-effects and clinical trials are expected to start next year.
If similar results are seen in human trials, the technique could transform treatments for a range of muscle-wasting diseases.
If we can improve the strength of muscles we can make a difference to the lives of these patients,” said Professor Jerry Mendell, a specialist in muscle disease at Ohio State University and a co-author on the study.
The technique works by manipulating the action of a natural protein called myostatin, which regulates muscle growth.
In infancy and childhood, when muscles are continuously developing, myostatin is almost absent, but as a stable muscle mass is reached in adulthood, myostatin begins inhibiting muscle growth.
Scientists discovered that a second protein called follistatin can bind to myostatin and prevent it carrying out its role as a muscle growth inhibitor. By artificially introducing a follistatin-producing gene into the body, muscle growth can be encouraged.
In the study, published in the journal Science Translational Medicine, six macaque monkeys received the treatment in their thigh muscles. A common cold virus was used to carry the follistatin gene into muscle cells, where it slotted into the muscle cells’ DNA.
Once in place, the gene produced follistatin protein, which paved the way for increased muscle growth.
After the treatment, the monkeys’ leg muscles grew steadily, and were 15 per cent bigger in circumference on average after eight weeks.
Using electrical muscle stimulation, the scientists showed that the treated legs were also significantly stronger than the untreated legs. In one monkey, the treated leg was 78 per cent stronger.
The enhanced size and power were retained 15 months after the treatment and caused no apparent health problems.
While this therapy would not offer a cure for hereditary conditions such as Duchennes Muscular Dystrophy (DMD), it could limit the impact of disease and allow patients to retain the ability to walk and use their arms for much longer.
The researchers have now applied to test the therapy in patients with muscle disorders.
Professor Dominic Wells, a DMD specialist at Imperial College London, described the findings as very promising but said that one drawback was the need for patients to take immunosuppressant drugs alongside the therapy.
This can be a particular problem for diseases such as DMD, which affects the lungs and leaves patients prone to respiratory infections.
It will also have to be established that increasing muscle mass is effective in treating diseases such as DMD, which affect muscle quality.
“If you don’t address the underlying genetic defect then you could just get a larger amount of weak muscle,” said Professor Wells.
He said it was likely that the full benefit of the technique would only be seen in combination with other treatments.
Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign, said: “If proven to be safe and efficient, reducing the activity of myostatin could potentially be used to increase muscle strength for people with a broad range of neuromuscular conditions.
“These results, shown in healthy monkeys, are encouraging and represent another step forward in taking this therapeutic approach to clinical trial.”
Although the monkeys appeared to suffer no serious side-effects, Professor Wells said that the treatment would be unlikely to be attractive to athletes wishing to enhance their performance, because high levels of follistatin would be easily detected.
A gene therapy that increases the size and strength of muscle tissue could soon be used to treat neuromuscular disorders such as muscular dystrophy, according to scientists.
In a study on monkeys, the treatment, which modifies the body’s natural regulation of muscle growth, was found to have long-lasting effects on muscle mass and tone.
The treatment produced no obvious negative side-effects and clinical trials are expected to start next year.
If similar results are seen in human trials, the technique could transform treatments for a range of muscle-wasting diseases.
If we can improve the strength of muscles we can make a difference to the lives of these patients,” said Professor Jerry Mendell, a specialist in muscle disease at Ohio State University and a co-author on the study.
The technique works by manipulating the action of a natural protein called myostatin, which regulates muscle growth.
In infancy and childhood, when muscles are continuously developing, myostatin is almost absent, but as a stable muscle mass is reached in adulthood, myostatin begins inhibiting muscle growth.
Scientists discovered that a second protein called follistatin can bind to myostatin and prevent it carrying out its role as a muscle growth inhibitor. By artificially introducing a follistatin-producing gene into the body, muscle growth can be encouraged.
In the study, published in the journal Science Translational Medicine, six macaque monkeys received the treatment in their thigh muscles. A common cold virus was used to carry the follistatin gene into muscle cells, where it slotted into the muscle cells’ DNA.
Once in place, the gene produced follistatin protein, which paved the way for increased muscle growth.
After the treatment, the monkeys’ leg muscles grew steadily, and were 15 per cent bigger in circumference on average after eight weeks.
Using electrical muscle stimulation, the scientists showed that the treated legs were also significantly stronger than the untreated legs. In one monkey, the treated leg was 78 per cent stronger.
The enhanced size and power were retained 15 months after the treatment and caused no apparent health problems.
While this therapy would not offer a cure for hereditary conditions such as Duchennes Muscular Dystrophy (DMD), it could limit the impact of disease and allow patients to retain the ability to walk and use their arms for much longer.
The researchers have now applied to test the therapy in patients with muscle disorders.
Professor Dominic Wells, a DMD specialist at Imperial College London, described the findings as very promising but said that one drawback was the need for patients to take immunosuppressant drugs alongside the therapy.
This can be a particular problem for diseases such as DMD, which affects the lungs and leaves patients prone to respiratory infections.
It will also have to be established that increasing muscle mass is effective in treating diseases such as DMD, which affect muscle quality.
“If you don’t address the underlying genetic defect then you could just get a larger amount of weak muscle,” said Professor Wells.
He said it was likely that the full benefit of the technique would only be seen in combination with other treatments.
Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign, said: “If proven to be safe and efficient, reducing the activity of myostatin could potentially be used to increase muscle strength for people with a broad range of neuromuscular conditions.
“These results, shown in healthy monkeys, are encouraging and represent another step forward in taking this therapeutic approach to clinical trial.”
Although the monkeys appeared to suffer no serious side-effects, Professor Wells said that the treatment would be unlikely to be attractive to athletes wishing to enhance their performance, because high levels of follistatin would be easily detected.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is the most severe form of the genetic defect of the protein dystropin which causes weakness in the muscles. As it affects the X chromosome, it occurs mostly in young boys and is the most common form of MD in children. Symptoms usually start showing up around ages 2 to 6.
Here are certain signs and symptoms of Duchenne's MD:
1. Frequent falling
2. Large calf muscles
3. Difficulty getting up from a lying or sitting position
4. Weak lower leg muscles, difficulty in running and jumping
5. Funny gait while walking.
6. Mild retardation in some cases.
The symptoms first affects the muscles in the upper arms, legs and pelvis. By late childhood, the person will not be able to walk. Most sufferers only manage to survive till their early 20s due to complications that occur. There is currently no known cure and treatment for muscular dystrophy is confined to certain forms of therapy.
Here are certain signs and symptoms of Duchenne's MD:
1. Frequent falling
2. Large calf muscles
3. Difficulty getting up from a lying or sitting position
4. Weak lower leg muscles, difficulty in running and jumping
5. Funny gait while walking.
6. Mild retardation in some cases.
The symptoms first affects the muscles in the upper arms, legs and pelvis. By late childhood, the person will not be able to walk. Most sufferers only manage to survive till their early 20s due to complications that occur. There is currently no known cure and treatment for muscular dystrophy is confined to certain forms of therapy.
Tuesday, November 10, 2009
Muscular Dystrophy Treatment
Muscular dystrophy is a genetic muscle disease that is hereditary. It weakens the muscles that move the human body and is characterised by progressive skeletal muscle weakness, defects in muscle proteins and the gradual death of muscle cells and tissue.
So far, there are nine diseases that are classified as muscular dystrophy but in actual fact, there are more than a hundred diseases that have similar characteristics to it.
This disease was first discovered in the 1860s when boys were observed to become progressively weaker, lost the ability to walk and died at a fairly young age. French neurologist, Guillaume Duchenne gave a very comprehensive account of 13 boys who suffered from the most common and severe form of the disease. Over the years, it has been shown that more than one form of this disease exists and it can affect males of all ages.
Diagnosing people with this disease varies according to the type and progression of the disorder. Some cases tend to be mild and progress very slowly over a normal lifespan while others progress fairly rapidly with severe muscle weakness, functional disability, and the loss of the ability to walk. While the lifestyle will be affected, some are still able to carry on living. The most severe form of the disease usually occurs in children while adults suffer from the milder form.
To date, there is no known cure for the disease. Treatments that have proven helpful include:
1. Physical Therapy
2. Occupational Therapy
3. Orthotic Intervention
4. Speech Therapy
5. Orthopedic Instruments (e.g. wheelchairs and standing frames)
Living with this disease is possible by teaching the individual to engage in daily activities at the most independent level possible. This can be achieved with the use of adaptive equipment and the utilisation of energy conservation techniques. Other areas to address include psychosocial changes and cognitive decline. During therapy, support and education about muscular dystrophy is also provided to the family and individual.
So far, there are nine diseases that are classified as muscular dystrophy but in actual fact, there are more than a hundred diseases that have similar characteristics to it.
This disease was first discovered in the 1860s when boys were observed to become progressively weaker, lost the ability to walk and died at a fairly young age. French neurologist, Guillaume Duchenne gave a very comprehensive account of 13 boys who suffered from the most common and severe form of the disease. Over the years, it has been shown that more than one form of this disease exists and it can affect males of all ages.
Diagnosing people with this disease varies according to the type and progression of the disorder. Some cases tend to be mild and progress very slowly over a normal lifespan while others progress fairly rapidly with severe muscle weakness, functional disability, and the loss of the ability to walk. While the lifestyle will be affected, some are still able to carry on living. The most severe form of the disease usually occurs in children while adults suffer from the milder form.
To date, there is no known cure for the disease. Treatments that have proven helpful include:
1. Physical Therapy
2. Occupational Therapy
3. Orthotic Intervention
4. Speech Therapy
5. Orthopedic Instruments (e.g. wheelchairs and standing frames)
Living with this disease is possible by teaching the individual to engage in daily activities at the most independent level possible. This can be achieved with the use of adaptive equipment and the utilisation of energy conservation techniques. Other areas to address include psychosocial changes and cognitive decline. During therapy, support and education about muscular dystrophy is also provided to the family and individual.
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