limb girdle muscular dystrophy
Advocacy Project
Limb girdle muscular dystrophy
LGMD is caused by a mutation in any of at least 15 different genes that affect proteins necessary for muscle function. Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types are autosomal recessive and occur when a faulty gene is inherited from each parent.
Over time, muscle weakness and atrophy can lead to limited mobility and an inability to raise the arms above the shoulders. The involuntary muscles, except for the heart (which is a special type of involuntary muscle), aren't affected in LGMD. Digestion, bowel, bladder and sexual function remain normal.
What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy (LGMD) isn’t really one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the muscles connected to the limb girdles that are the most affected in LGMD.
The term proximal is also used to describe the muscles that are most affected in LGMD. The proximal muscles are those closest to the center of the body; distal muscles are farther away from the center (for example, in the hands and feet). The distal muscles are affected late in LGMD, if at all.
As of late 2012, there are more than 20 different subtypes of LGMD, and this is a complex and constantly evolving area of research. See the table below for a more complete list of the LGMD subtypes.
What is the progression of LGMD?
At this time, progression in each type of LGMD can’t be predicted with certainty, although knowing the underlying genetic mutation can be helpful. Some forms of the disorder progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability.
LGMD can begin in childhood, adolescence, young adulthood or even later. Both genders are affected equally.
When limb-girdle muscular dystrophy begins in childhood, some physicians say, the progression is usually faster and the disease more disabling. When the disorder begins in adolescence or adulthood, they say, it’s generally not as severe and progresses more slowly.
Signs and Symptoms
Often, people with LGMD first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs.
Weakness in the shoulder area may make reaching over the head, holding the arms outstretched or carrying heavy objects difficult. It may become increasingly hard to keep the arms above the head for such activities as combing your hair or arranging things on a high shelf. Some people find it harder to type on a computer or other keyboard and may even have trouble feeding themselves.
Assistive devices, such as a cane or a long-handled reacher, can make things easier as weakness progresses.
A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. People whose LGMD has reached this stage often find that a great deal of their independence returns, and they’re much less fatigued, when they begin using this type of vehicle.
The heart can be affected in LGMD, but this doesn’t occur as often as it does in some other forms of muscular dystrophy. Heart problems can take two forms — weakness of the heart muscle (cardiomyopathy) and abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias). The heart should be monitored for these complications. When necessary, medications or devices (such as pacemakers) can be used to treat them.
Respiratory (breathing) function can decline over time, and this, too, should be monitored regularly. There are devices that can help sustain respiratory function.
LGMD, like other muscular dystrophies, is primarily a disorder of voluntary muscles. These are the muscles you use to move the limbs, neck, trunk and other parts of the body that are under voluntary control.
The involuntary muscles, except for the heart (which is a special type of involuntary muscle), aren’t affected in LGMD. Digestion, bowel and bladder functions and sexual function, which are carried out by involuntary muscles, remain normal.
Pain isn’t a major part of LGMD, although limited mobility sometimes leads to muscle soreness and aching joints.
Exercises to keep joints limber, moving around as much as possible, warm baths and, if needed, medication can keep this kind of discomfort to a minimum.
The brain, the intellect and the senses are unaffected in LGMD. People with LGMD can think, see, hear and feel sensations as well as those without muscular dystrophy.
Assistive devices
Simple devices like a cane or a long-handled reacher can make things easier as weakness progresses.
A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. People whose LGMD has reached this stage often find that a great deal of their independence returns, and they’re much less fatigued when they begin using this type of mobility equipment.
Therapy and exercise
Physical and occupational therapy programs are usually part of the treatment for LGMD. Occupational therapy focuses on specific activities and functions, particularly use of the hands, while physical therapy emphasizes mobility and (where possible) strengthening of large muscle groups. Your MDA clinic physician may refer you to the therapy department at your medical center for a thorough evaluation and an individualized exercise program.
The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures (freezing of the joints). These problems can arise when movement is limited, and it’s important for the patient’s comfort and function to avoid them.
In occupational therapy, the focus is on improving abilities related to your job, recreation or daily living. For example, arm supports can make tasks such as using a computer or fixing your hair less tiring.
Doctors and therapists have somewhat different opinions on the relative value or danger of various exercise regimens in people with muscular dystrophy. In LGMD, certain kinds of stress-causing exercises may actually hasten muscle damage.
Some experts recommend swimming and water exercises as a good way to keep muscles as toned as possible without causing undue stress on them. The buoyancy of the water helps protect against certain kinds of muscle strain and injury. Before undertaking an exercise program, make sure you’ve had a cardiac evaluation, and don’t swim alone. For more on exercise, see Exercising with a Muscle Disease.
Nondrug treatment
Physiotherapy to prevent contractures, using passive stretching, exercise therapy, ± orthoses.[13]
Exercise - the role of exercise in LGMD is controversial, but guidelines for other types of muscular dystrophy suggest gentle exercise within limits of comfort, and avoidance of prolonged immobility.
Occupational therapy and aids such as a wheelchair, with careful attention to seating so as to minimise the development of scoliosis.
Genetic counselling.
Advice on benefits.
Support groups (eg, Muscular Dystrophy Campaign).
Monitoring for complications (see 'Complications and their Management', below).
Possible drug treatment
Corticosteroids have been used in some patients with LGMD 2C-F, giving improvement in some reported cases.[2][14]
A study involving two patients with dysferlin-deficient muscular dystrophy reported an improvement in muscle strength after treatment with rituximab.[15]
Research
Throughout the 1990s and the first decade of the 21st century, MDA-supported researchers identified dozens of genes that, when defective, cause LGMD.
This gene identification work continues to the present day, along with research to determine the precise function of these genes so that missing functions can be compensated for and toxic functions can be inhibited.
In the recessive forms of LGMD, it may be possible to insert a new gene to compensate for one that isn’t working properly. This type of intervention — gene therapy — has shown promise in a pilot trial in people with the alpha-sarcoglycan-deficient form of LGMD.
In the dominant forms of LGMD, blocking a toxic function using strategies such as "antisense," which keep cells from interpreting genetic information, may become a treatment in the future.
Some genetic mutations, known as “premature stop codons,” cause cells to stop reading genetic instructions before a fully functional protein has been synthesized. A drug that causes cells to “read through” these stop codons is being tested in another form of muscular dystrophy (Duchenne) and may have some application in LGMD.
Some genetic mutations add or remove DNA and change the way cells interpret the information in a gene. In Duchenne muscular dystrophy, clinical trials are under way of compounds that coax cells to snip out these error-containing DNA regions (exon skipping); this research also may have relevance for LGMD treatment.
Still another strategy is to use stem cells to help ailing muscles regain strength. Stem cells are early-stage, flexible cells that can give rise to mature muscle fibers. They're found in muscle tissue and other places in the body, and scientists are working to determine which cells are the safest and most effective to test in people with LGMD and other diseases.
An additional avenue of investigation is blocking a natural protein called myostatin, which puts a brake on muscle growth.
To read the most current news about any of the research strategies mentioned here, use the MDA search box found at the top of this page.
To learn more, read In Focus: Limb-Girdle Muscular Dystrophy (October 2013 special report).
Limb Girdle Muscular Dystrophy
The Limb Girdle muscular dystrophies (LGMD) comprise at least a dozen different specific entities. Each of these distinct disorders is in itself rare. Patients with LGMD usually begin to have symptoms in adolescence or early adulthood, however, some forms of LGMD are more severe with symptoms beginning in childhood. Typically, these symptoms include weakness in the shoulders, hips, upper arms and legs. For example, patients may have progressive difficulty lifting or climbing stairs. In some forms of LGMD, the heart muscle is also affected. Although LGMD is inherited, there is frequently no family history of this disorder.
Diagnosis and Treatment
The diagnosis of LGMD is based on the clinical history, including a possible family history, physical examination and supporting laboratory studies. For some of the LGMDs, it is possible to make a definitive diagnosis by a blood test to determine the specific genetic defect responsible for symptoms. Our genetics counselor will carefully review the history of disease with each family, discuss the principles of inheritance and help weigh risks and benefits of genetic testing of various family members. In other situations, additional laboratory studies are necessary to make a diagnosis including electrodiagnostic testing (EMG) and muscle biopsy. Muscle biopsy is often helpful to determine if weakness is caused by muscular dystrophy, an inherited disorder, or by other acquired causes of muscle degeneration such as from inflammation or toxic exposure.
Treatment of LGMD is by a multidisciplinary team. A neurologist oversees the various needs of the patient and directs care. Specialists in rehabilitation medicine are present during the MDA clinic to meet with patients and provide individualized exercise and stretching programs for the treatment of weakness and contractures. Also on the same day, the patient will be evaluated for the need for splints and orthotics to help with hand or foot function. Equipment needs as well as social and financial needs are addressed. Other services, such as from an orthopedic surgeon, for further treatment of contractures or scoliosis, or from a cardiologist, for the treatment of cardiomyopathy or cardiac arrhythmias, are available as needed and are provided by physicians with special interest and expertise in MDA diagnoses.
Others who live with limb girdle muscular dystrophy
Mandy Van Benthuysen
When I was 4 years old, my parents took me to a specialist to find out why I walked with an unusual waddle. They learned I had limb-girdle muscular dystrophy.
Like many of you, we were shocked and scared by this diagnosis. My parents wondered why I had this disease; we had no history of it in our family.
But LGMD is caused by any of several rare genetic defects that people may not even know they have. That means it wasn’t caused by anything you or your parents did, and you didn’t catch it from anyone.
My family had to learn a lot about muscular dystrophy and make some major adjustments, both physical and psychological. Our world came to include doctor visits, leg braces, physical therapy and lots of questions. But gradually, muscular dystrophy just became a part of our lives, and we coped with it by learning all we could. Thanks to my determined parents, my devoted sister and the help of the Muscular Dystrophy Association, I had a wonderful childhood.
I graduated from college, and I'm now working in L.A. in the television industry. I use a wheelchair or scooter part time to help me when I work, travel and have fun with my friends.
I hope you can tell from my story that having limb-girdle muscular dystrophy doesn’t mean the end of your choices or your dreams. It isn’t easy to live with muscles that grow weaker over time, but you can have a very rewarding life with this condition.
Not everyone with LGMD has the same experience, but most of those I’ve met have busy, fulfilling lives like mine. I know of a writer, a doctor, an air traffic controller, some teachers, school and college administrators, a real estate professional, a travel agency operator — all with limb-girdle MD. Many of these bright, active, independent people are married, and some have children — and grandchildren.
Those of us with LGMD have a lot of support today. People with disabilities have more opportunities than ever before to develop and use their abilities. Federal law guarantees us a public education, equal employment opportunity and access to public places. Computers and technology help me and other people with muscular dystrophy to move around, write, work and drive.
By far, my greatest ally in living with LGMD is MDA. I’m sure my parents would say the same thing. The Association is also the world leader in research on neuromuscular diseases, and its scientists have made many exciting discoveries about LGMD in the years since my diagnosis. We all pray for the day when no one has to have a neuromuscular disease.
MDA will help you answer all your questions as they arise. As you face the challenges ahead, please remember two important things about having LGMD: First, MDA is making rapid progress toward better treatments and a cure. Second, you’re not alone.
Eva's journey with Muscular Dystrophy
At the age of 8 years, something happened to my nerves I remember feeling pain and my body was also shaking uncontrollably I had no fever though I couldn't see it myself people around me especially my parents saw something was out of the ordinary. After a few days without change my parents decided to take the trip to the hospital and to their surprise that was the beginning of my journey with muscular dystrophy, I couldn't hold a pencil to write my name and this was really getting on my nerves because for me I was okay since I had no fever.
The doctors did not actually tell my parents exactly what I had and a few years later my walking style had changed and I now walked with an unusual waddle. The sports I participated in like soccer, basketball and volley ball were now becoming so difficult for me and by the time I got to High School I had difficulty dressing up and standing up from a sitting position. At the age of 14 years my parents took me again to a physician who referred us to a neurologist where a CK, blood and physical exams was done and that's how I got my diagnosis.
I was diagnosed with limb-girdle muscular dystrophy. My parents were shocked, I was shocked and to make matters worse the doctor said it was hereditary and no family member living or dead had ever been diagnosed with muscular dystrophy, this condition was foreign to all of us. The doctor told us LGMD like other types of MD had no cure.
LGMD is a rare genetic disorder that is why one can get it even if there is no family history of the condition. Thanks to my parents and siblings life wasn't so rough for me as a teenager growing up with LGMD and even now that I am married I still thank my parents for the opportunities they gave me.
In my Primary School years I got bullied because I had enlarged calf muscles and my walking earned me a ticket for bullying but I got over it, not for once did I cry for being bullied . The constant stares from people especially when I am being help to stand in public places sometimes used to make me feel like an alien but that too passed.
I graduated from college, with a Diploma in Legal studies. I run a family business with my husband and I am also the founder of MUSCULAR DYSTROPHY AWARENESS OF KENYA which is also doing well in creating awareness about MD and other related disabilities here in Kenya. It was founded in the year 2009. I wanted to connect with people with the same condition as me.
It wasn't easy starting up cause first I had to learn about MD and through the internet I got what I was looking for first information and second to connect with people with the same condition. I have learned a lot from the My Becker Story blog, MDA, the speak foundation and the Muscular Dystrophy Campaign. In Kenya a few years back when I was diagnosed no one knew about muscular dystrophy apart from the individuals who had been diagnosed with MD. It took me 15 years to meet people with MD in Kenya thanks to the Organization I founded.
With LGMD you can live a life that you've always wanted, what you need is faith, believe you can and go do what you really love your disability notwithstanding. Our Government has also stepped up and is also giving people with disabilities more opportunities than ever before to develop and use their abilities i.e in employment placement and education for all.
With the research going on around the world, I do believe in hope and with the breakthrough we saw in some form of Duchenne there is indeed light beyond the tunnel.
We are all in this together and a cure is coming soon...
Last but not least I would like to thank Brad Miller for the work that he does in educating us all about BMD. I feel humbled to know you. God bless you abundantly.
Kevin’s Story
Leading an active life with muscular dystrophy has its challenges, but Kevin takes them all in stride. There was the frustration this former distance swimmer and three-time Junior Olympian felt when he couldn’t swim 25 yards. And the time he was headed to a black tie dinner only to cancel his plans when he learned that one of the two wheelchair cabs in town was broken. “That was a real ah-ha moment. I don’t want to be in that position again…the position of not being able to do something because of my limited mobility.”
Photo: KevinKevin was living in Washington, DC when he was diagnosed with FSHD. As the muscle inflammation, wasting, and loss of balance got worse, his doctor suggested he move someplace warmer that had FSHD specialists. Kevin chose Atlanta. “I took a big pay cut. I was looking for a less stressful job with really good insurance. My new company offered long term disability insurance from day one. I was thinking long term without making it sound like I was thinking long term.”
“Stairs were tough, but I could do them. Then I decided to use the cane, and then the crutch. I had six trips to the ER during the first two and a half months of the year, all from falls. My doctor said next time it would be a broken hip, and I’d be in the hospital for months. That’s when I got the wheelchair. Now I can do so much more.”
Earlier this year Kevin decided to go on disability. Volunteer work keeps him busy, and his physical and mental health has improved. He works with the Humane Society and helps lead a fundraiser supporting AIDS vaccine development. He’s registering to be a citizen lobbyist during the next Georgia legislative session. Kevin also has an idea to help others with FSHD. “We need something to help people when they’re first diagnosed. New patients ask the same questions. It’s overwhelming to learn you have a disease you can’t even pronounce. Social media is helping connect patients and break down the isolation faced by many with FSHD.”
As Kevin enters his second decade living with muscular dystrophy, he laughs that he turned 40 and got a minivan in the same month. “I don’t think that’s how your midlife crisis is supposed to go.” When asked if he thinks about the next ten years, he says “I can’t go there. I can’t stress about the things I can’t control. Today my life is great.”