New cause found for muscle-weakening disease myasthenia gravis

New cause found for muscle-weakening disease myasthenia gravis

Posted By News On November 11, 2013 - 4:31pm

Augusta, Ga. – An antibody to a protein critical to enabling the brain to talk to muscles has been identified as a cause of myasthenia gravis, researchers report.
The finding that an antibody to LRP4 is a cause of the most common disease affecting brain-muscle interaction helps explain why as many as 10 percent of patients have classic symptoms, like drooping eyelids and generalized muscle weakness, yet their blood provides no clue of the cause, said Dr. Lin Mei, Director of the Institute of Molecular Medicine and Genetics at the Medical College of Georgia at Georgia Regents University.
"You end up with patients who have no real diagnosis," Mei said.
The finding also shows that LRP4 is important, not only to the formation of the neuromuscular junction – where the brain and muscle talk – but also maintaining this important connection, said Mei, corresponding author of the paper in The Journal of Clinical Investigation.
Mei and his colleagues first reported antibodies to LRP4 in the blood of myasthenia gravis patients in the Archives of Neurology in 2012. For the new study, they went back to animals to determine whether the antibodies were harmless or actually caused the disease. When they gave healthy mice LRP4 antibodies, they experienced classic symptoms of the disease along with clear evidence of degradation of the neuromuscular junction.
LRP4 antibodies are the third cause identified for the autoimmune disease, which affects about 20 out of 100,000 people, primarily women under 40 and men over age 60, according to the National Institutes of Health and Myasthenia Gravis Foundation of America, Inc.

This is Dr. Lin Mei, Director of the Institute of Molecular Medicine and Genetics at the Medical College of Georgia at Georgia Regents University.
(Photo Credit: Phil Jones)

An antibody to the acetylcholine receptor is causative in about 80 percent of patients, said Dr. Michael H. Rivner, MCG neurologist and Director of the Electrodiagnostic Medicine Laboratory, who follows about 250 patients with myasthenia gravis. Acetylcholine is a chemical released by neurons which act on receptors on the muscle to activate the muscle. More recently, it was found that maybe 10 percent of patients have an antibody to MuSK, an enzyme that supports the clustering of these receptors on the surface of muscle cells.
"That leaves us with only about 10 percent of patients who are double negative, which means patients lack antibodies to acetylcholine receptors and MuSK," said Rivner, a troubling scenario for physicians and patients alike. "This is pretty exciting because it is a new form of the disease," Rivner said of the LRP4 finding.
Currently, physicians like Rivner tell patients who lack antibody evidence that clinically they appear to have the disease. Identifying specific causes enables a more complete diagnosis for more patients in the short term and hopefully will lead to development of more targeted therapies with fewer side effects, Rivner said.
To learn more about the role of the LRP4 antibody, Mei now wants to know if there are defining characteristics of patients who have it, such as more severe disease or whether it's found more commonly in a certain age or sex. He and Rivner have teamed up to develop a network of 17 centers, like GR Medical Center, where patients are treated to get these questions answered. They are currently pursuing federal funding for studies they hope will include examining blood, physical characteristics, therapies and more.
Regardless of the specific cause, disease symptoms tend to respond well to therapy, which typically includes chronic use of drugs that suppress the immune response, Rivner said. However, immunosuppressive drugs carry significant risk, including infection and cancer, he said.
Removal of the thymus, a sort of classroom where T cells, which direct the immune response, learn early in life what to attack and what to ignore, is another common therapy for myasthenia gravis. While the gland usually atrophies in adults, patients with myasthenia gravis tend to have enlarged glands. Rivner is part of an NIH-funded study to determine whether gland removal really benefits patients. Other therapies include a plasma exchange for acutely ill patients.

Source: Medical College of Georgia at Georgia Regents University

Emergency Room Prep

Emergency Room Prep

• Get the facts from your doctor. During a regular visit, have an “emergency” conversation with your MDA clinic physician and specialists (pulmonary, cardiac, etc.). Ask what symptoms should be taken seriously, and what kinds of special circumstances might come up in the emergency room. Find out where your regular doctors have hospital privileges, so if you have a choice of emergency rooms, you can go there. Ask if you can call them while en route to the ER. If you’re at a hospital where your regular medical team doesn’t have privileges, the ER staff may be willing to reach out to them anyway.
• Have an advance directive. The “Five Wishes Living Will” document can be a good starting point. Call (888) 594-7437 for more information.
• Put important information all in one place. Prepare a folder that can be quickly grabbed in an emergency, containing all necessary insurance information; medical diagnosis; doctors’ names and contact info; current prescriptions and supplements; and any recent test results.
• Have remote access to your medical information. To contact the MedicAlert service described in the main article, call (888) 633-4298. Small, portable memory-stick-type devices can be loaded with personal medical info and carried in a purse or on a keychain. Check out MedicTag (medictag.com) and MedIDCard (877-916-3343). Each costs less than $50.
• Bring a friend or relative. They can provide comfort and distraction, advocate for you with medical staff, and take notes on all procedures, medications and tests — helpful if you have questions later or want to challenge your bill.
• Prepare for a long wait. A book or personal music player can make the time pass faster. Parents, remember to bring your child’s favorite lovey or blankie; it can significantly reduce their stress. Bring a little cash, so parents or buddies can have a cup of coffee or sandwich. (But don’t give any food or liquids to the patient without permission from the ER doctor.) And don’t forget a cell phone and charger!
• Speak up. Whether you’re in the waiting room or inside an ER examining room, tell the ER staff about ANY change in your condition. They aren’t mind readers and might not realize your status has changed if no one tells them.

A Dozen Ways to Ask for Help

by Barbara and Jim Twardowski on October 1, 2010 - 4:45pm

QUEST Vol. 17, No. 4

 

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I was taught it is better to give than to receive. Don’t ask for handouts. Pull your own weight.
All my life, I told myself, “You are only handicapped if you allowed yourself to be handicapped.” That belief worked for me when I could still stand and walk. Now that my legs don’t function and my hands are extremely weak, I recognize that my physical being has limitations. I have readjusted my self-perception and understand that I need people to help me.
Having lived through Hurricane Katrina (half our home was destroyed by the storm), I have had a crash-course in accepting the assistance of the U.S. government, the Red Cross, my church, friends, family and strangers. For a few weeks, my family lived out of state. Although we owned a home, we felt homeless. It took nearly eight months to rebuild our house. During that time, I was depressed, scared, frustrated and angry. People helped us move furniture, prepared meals for my family, invited us to their homes for dinners, taxied our son and supported me emotionally through one of the most difficult periods of my life.
When the house was repaired, the support ended. However, my disease progressed. Unlike a national disaster, my difficulties have not been broadcast on the evening news. My dependence on my husband, Jim, has gradually increased. He not only cares for me, but has taken on more of the household chores. Like nearly 50 million people in the U.S., Jim is a family caregiver.
I am having trouble with daily living skills (dressing, bathing, transferring, food preparation and more). Jim does not complain about his added responsibilities, but I can see the extra work is stressful. Our family may be approaching a major disaster, but no one is rushing to our aid.
Most people find it difficult to ask for help. Even when well-intentioned friends offer to help, I’m not sure how to respond. I feel embarrassed.
In the book, Mayday! Asking for Help in Times of Need (Berrett-Koehler Publishers, 2007), author M. Nora Klaver says there are several reasons why people wait until they are desperate to seek assistance. People are uncomfortable and afraid to ask. We value our independence and no one taught us how to ask for help. She says that we don’t recognize that we have a need until we are in a crisis. Often, we are unclear about exactly what we need, or we ask the wrong person to help fulfill our request.

A young neighbor who enjoys cooking assists the author occasionally in the kitchen.

Learn how to ask for help
Klaver’s book details a seven-step “Mayday! Process.” The first step is “name the need.” Be specific about the need and be open to possibilities. This may sound simple, but it will take some analysis of your situation.
Begin by making a list of the areas where you need a hand, such as transportation, household chores, running errands, yard work, pet care. Prioritize the list. What can be delegated to a service? Perhaps you can hire a housekeeper or teenager to mow the lawn. What needs could be met with volunteers?
Besides looking at my needs, I also consider what would make life easier for Jim. In our home, we need help with meals. Although Jim enjoys cooking, he can’t prepare dinner on the days he works a 12-hour shift. Dining out is great, but our budget is limited.
Dennis Botts, a retired social worker and former director of the Rapides Regional Medical Center located in Alexandria, La., accepted meals from his church when he was recovering from cancer, and also received tremendous support from his professional peers. Botts, who recruits volunteers for the Red Cross, offers these words of advice: “Networking isn’t formal. It is informal. Getting what you need — at the level you need — takes bulldog persistence. Get over the problem of asking for help. Tell them what you need. They won’t say, ‘No.’”

12 ways to ask for help
1. Brainstorm solutions with friends and family. That’s how we came up with several ways to arrange affordable meals and take the pressure off Jim. On Wednesday nights, we attend a church supper and eat for $8. A family in our town cooks and delivers meals, so occasionally we buy their entree of the week. Once or twice a month, I cook with the assistance of a 10-year-old neighbor, Heather, who has earned her Girl Scout cooking badge and taken cooking lessons. With Heather’s assistance, I’ve made a variety of soups, casseroles and desserts. Another friend has offered to cook us a complete meal once a week, and we will pay her for the ingredients. During the summer and holidays, we turn the kitchen over to our college-age son’s capable hands.

2. Build a support network. Make a list of everyone you know. Talk to friends, neighbors and family members, matching their interest and talents to your needs. Connect and reconnect with friends and family. Look for ways to meet new people by joining a class or volunteering. If possible, meet with each person individually to discuss how she or he can help.

3. Build a support network that also assists your family caregiver. “We should worry about the caregivers,” says Botts. “Caregivers get sick, tired and depressed.”

4. Tap into service organizations. I’ve gotten help from a local Girl Scout troop and teenagers who needed to fulfill service hours for their school.

5. Use a care coordination service like myMuscleTeam. I created a support group e-mail list and send weekly notices telling the “members” what days Jim is working. If I would like to tackle a particular project, I explain what it is and ask for volunteers. MDA recently created a more formal tool to accomplish this: the myMuscleTeam care coordination service. You — or your caregiver — create a calendar of needs and then people who want to help can join your “community.” To learn more, visit mda.org and click on myMuscleTeam. The service is free.

6. Keep a list of how others can assist you. I write everything down, from changing a light bulb to picking up a loaf of bread. That way I’m ready if a friend calls me before running an errand. My friends don’t mind picking up a carton of milk or my dry cleaning, especially when it’s a trip they planned to make. If someone purchases an item for you, pay them when they deliver it.

7. Create short jobs. For example, I told a few neighbors and close friends that I needed “15-minute favors” on the days that Jim works. In 15 minutes, someone can unload a dishwasher, put the trash out, walk a dog or help me file mail.

8. Copy what other folks are doing. It’s one of the best ways to begin finding help, says Botts. Attend your local MDA support group and talk to people, or join myMDA, MDA’s online community, to meet people with neuromuscular diseases and their caregivers from all over the country. Ask them how they manage.

9. Dial 211 to find community services. This program is available in 46 states. 

10. Review MDA’s list of services by state. This extensive list of government and nonprofit agencies, broken down by state, can be found on MDA’s website.
11. Think outside the box. For example, even if you’re not a senior citizen, you might be eligible for the services available to them, such as transportation. Perhaps you need a ramp built and don’t have the funds to hire a carpenter. Call your local builder’s association, and ask if they have a community outreach program.

12. Be grateful for the help you receive — and express your gratitude. Send thank-you cards to helpers. Host a dinner (order takeout) to recognize the people who make your life easier. “People like to be of service,” says Botts. “You don’t want to deny them a good time.”

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Vaccine Risk to Myasthenia Gravis Patients May be Worth Taking

Released: 10/16/2013 9:00 AM EDT
Source Newsroom: American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM)

more news from this source

Newswise — A study presented at the annual meeting of the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) is considered a good first step in collecting data on vaccine-preventable illnesses in patients with myasthenia gravis, a neuromuscular disorder causing weakness and rapid fatigue of voluntary muscles.

“This research is important because there is very little existing data to guide physicians in recommending vaccination for patients with myasthenia gravis,” said Andrew Tarulli, MD, AANEM News Science Editorial Board member.

“Physicians, particularly primary care physicians, may undervaccinate their myasthenic patients because they may be concerned about the possibility of provoking an exacerbation. On the contrary, failure to vaccinate a patient may result in pneumonia or influenza, both of which are common precipitants of myasthenia exacerbations or even myasthenic crises,” said Dr. Tarulli.

The AANEM committee members reviewing the research agreed that it is a good first step in collecting data on vaccine-preventable illnesses and should be followed by studies documenting the safety of vaccination conducted in larger cohorts. The ultimate goal would be to produce a set of guidelines for neuromuscular physicians who treat myasthenics.

The study, entitled, Prevalence of Vaccine Preventable Infections in Myasthenia Gravis and its Exacerbations,was conducted by Crystal Dixon, MD, a neurology resident at the University of South Florida. Dr. Dixon received the Best Abstract Runner-Up award from the AANEM for her research.

About AANEM
Founded in 1953, the AANEM is a nonprofit membership association dedicated to the advancement of neuromuscular and electrodiagnostic medicine. Nearly 5000 physician members—primarily neurologists and physiatrists—allied health professionals, and PhD researchers work together to improve the quality of medical care provided to patients with muscle and nerve disorders. AANEM programs are guided by its five pillars: education, professional standards, advocacy, communications, and research. Its administrative office is located in Rochester, MN.

Flu Season Tips

 

Individuals affected by neuromuscular disease are at increased risk of serious and possibly life-threatening complications from the flu, so it's important that everyone stays informed and takes steps to protect themselves and their families. Be sure to visit MDA's Flu Season Resource Center to learn more.
In addition to receiving a flu vaccine, there are many other ways to protect yourself and those you love from exposure to influenza, including: by Quest Staff on October 3, 2013 - 9:23am

• Educate family members and roommates about the heightened risk of seasonal and H1N1 influenza for those with neuromuscular disease, and the importance of staying away from others who are experiencing flulike symptoms.

• Promote good hand hygiene among everyone in your home, which means washing hands with soap and water for at least 20 seconds (the time it takes to sing “Happy Birthday” twice), especially after coughing or sneezing. Alcohol-based hand sanitizers containing at least 60 percent alcohol also are effective. Encourage everyone in your home to practice respiratory etiquette by covering coughs and sneezes with tissues or with your arm. Dispose of tissues in a waste receptacle after use.

• Among your roommates and/or immediate family members, stress the importance of not sharing utensils and drinking cups, and encourage them to avoid touching their faces, especially after handling shared items such as telephones or remote controls.

• Educate yourself about symptoms of the flu — fever, cough, sore throat, body aches, chills and fatigue. Diarrhea and vomiting also may be experienced. Contact your physician as soon as possible if you develop flulike symptoms.

• Visit the CDC’s website and Flu.gov for additional tips and recommendations. Be prepared It’s also a good idea to be prepared in case you get the flu. For example:

• Make sure you have an adequate supply of prescribed medications on hand in the event you’re unable to leave the house because of illness.

• Make sure that your medicine cabinet is stocked with necessary health supplies, including fever-reducing medications, a thermometer, hand sanitizer for family members or roommates, etc.

If you have young children at home or you care for someone with neuromuscular disease, start a list of friends and family members who would be willing to help you at home in the event you contract the flu

Going to the Emergency Room:

 Tips for People with Neuromuscular Diseases by Donna Albrecht on July 1, 2011 - 4:18pm

When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.
“Most ER doctors will NOT understand these diseases,” states Gregory Carter, medical director of the MDA Regional Neuromuscular Center at Providence St. Peter Medical Center in Olympia, Wash., and co-director of the MDA/ALS Center at the University of Washington Medical Center in Seattle.
“Because of that, a respiratory patient can end up with an unwanted tracheostomy when an ER doctor pushes for aggressive care,” Carter says, noting that this has happened to several of his patients with Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and ALS (amyotrophic lateral sclerosis).
Respiratory problems are the top reason that people with neuromuscular diseases go to the emergency room, says Carter. Other common problems are dehydration and constipation/abdominal pain.
But the biggest danger at the ER may not be the problem you go in with, but the problem you get there. Besides the aforementioned unwanted tracheostomy (insertion of a breathing tube through the front of the throat), individuals in respiratory distress may be given supplemental oxygen, even though their problem is not caused by lack of oxygen but by weak respiratory muscles. Too much unnecessary oxygen can cause a potentially life-threatening suppression of breathing.
In addition, certain muscle diseases (including some muscular dystrophies, central core disease and multi-minicore disease) can cause a dangerous reaction to anesthesia called malignant hyperthermia.
Some neuromuscular disease symptoms can lead to serious misunderstandings in the ER, warns Michele Dressman, a pediatric nurse in the emergency room at John Hopkins Hospital, Baltimore, and longtime head of an MDA summer camp medical team.
For instance, she’s found that people with Friedreich’s ataxia often have slurred speech, leading ER providers to suspect drug or alcohol abuse. Or, a person whose neuromuscular disease causes floppy extremities and a lack of reflexes may be sent for a full spinal work-up looking for injuries. A young adult with advanced DMD who is complaining of abdominal pain may be treated for stomach problems but actually may be experiencing a cardiac event.
The best strategy for going to the emergency room is to be prepared before the emergency strikes. To that end, here are some tips from medical experts, and adults and parents of children with neuromuscular diseases.

Provide updated and complete medical information

Lights & Sirens!

Many people believe that if you arrive at the hospital in an ambulance, you go straight to the front of the line. Not so, says Michele Dressman, pediatric ER nurse at Johns Hopkins Hospital in Baltimore and longtime head of an MDA summer camp medical team. However you arrive, you will be evaluated and you may have to wait. Dressman says that how soon you’re seen will depend on your symptoms and history. If you have a complicated history, you will probably get quicker attention. If you do call an ambulance, find out in advance which hospital it will take you to. If you normally receive care at a major medical center and the ambulance takes you to a community hospital, physicians there may not be as experienced in your disease. It also can help to know the protocols and reputations of area medical facilities — for example, some hospitals are known to perform more tracheostomies than others. When speed is of the essence, you may not have a choice of ER, but if you do, knowledge can be power. People with neuromuscular diseases commonly go to the ER with respiratory problems. Keeping medical history records current helps to make an emergency room visit successful.

One ER physician who understands neuromuscular disease and why it sends many to the ER is Anne Rutkowski, a full-time ER physician in Harbor City, Calif., and the parent of a daughter with congenital muscular dystrophy.
In order to communicate effectively with health providers in an emergency, Rutkowski recommends MedicAlert, the gold standard for getting personal health information into the hands of paramedics and ER staff.
The distinctive MedicAlert bracelets or necklaces spell out diagnosis and allergies, and provide a phone number for accessing more detailed information like medication lists and personal physicians.
But, warns Greg Adams, director of educational services for MedicAlert, keeping MedicAlert records current is vital to getting the best results in an emergency. When ER doctors call the service, they get both the information and the date when it was last verified. Adams says providers look for information that is less than 1 year old and prefer information that’s been confirmed in the last 90 days. This means updating MedicAlert records every time you get a new prescription, stop a medication, or get a new diagnosis or physician.

Buddy up: Take an advocate to the ER

Even when ER patients can talk for themselves, it helps to have someone else there — a spouse, parent or friend — to remind medical staff that the patient has muscular dystrophy, not multiple sclerosis; no, she can’t get up on the bed by herself; no, he can’t lie flat, he has contractures; and so on. And a buddy can push the nurse call button if the patient can’t.
Having a companion ensures that not only does the ER staff know about any special concerns, but so does the lab or X-ray staff. For Mary Sammons of Enterprise, Ore., who has limb-girdle muscular dystrophy, the misunderstanding began when the X-ray staff put her in a chair with wheels, but apparently no brakes. “The chair slipped out from under me when I tried to transfer and I was clinging on for dear life to the X-ray machine while three others where trying to get me back in the wheelchair,” she recalls ruefully.
Besides having a buddy, continue to be a self-advocate, advises Annie Kennedy, MDA senior vice president for advocacy. “You know what’s normal for you. Many ER docs don’t know neuromuscular diseases well and may minimize symptoms that are actually quite significant. If something isn’t right and your gut tells you so, advocate until someone pays attention to you.”
And remember: Although providers usually are happy to allow an advocate to stay with an ER patient, this is a courtesy. If the buddy, spouse or parent becomes emotionally overwhelmed or verbally abusive, they probably will be shown the door back to the waiting room.

Advance directives speak for you

There is a document you must prepare if you want to be sure your wishes are followed in a life-or-death situation. Advance directives are available online, but be sure to get one that’s recognized in your state. They contain several parts:

• a medical power of attorney, designating the person (and possible backups) who can make medical decisions if you’re unable to speak for yourself;
• specifications about how much (if any) life support you want, the level of pain management you want; and whether you want to donate some or all of your body; and
• the name and contact information of the physician you want to handle your medical care.

Many MDA families use the Five Wishes Living Will. The document (which costs about $5) can be customized and translated into 26 languages and meets the legal requirements in 42 states. Not only is it useful in emergencies, but it can help families start important-but-difficult discussions about care in times of serious illness.

It’s not all bad

Although ER providers aren’t always current on neuromuscular conditions, you might be surprised by how much they can teach their patients, or their parents and buddies.
For example, one night shortly after my daughter with SMA received a tracheostomy, her appliance started to block and I was having trouble clearing it. Since it was about time to replace the surgical trach with a removable/cleanable one, the ER doctor took the time to teach me what needed to be done and supervise me as I changed her appliance.
Definitely scary — but extremely helpful.
Sometimes an ER temporary fix can actually lead to a better situation. For example, Anne Rutkowski recalls an ER patient with ALS who came in with a problem with his feeding tube.
The hospital didn’t have the exact type of tube he’d been using, so she used a Foley catheter as a temporary fix. He liked it so much that when she called him to tell him she had the tube he needed, he told her he liked the Foley better and wasn’t interested in trading it in!

Lenora Cash of Jewelry by La Cash's Interview with So Exquisite Charleston!

Spotlight: Lenora Cash of Jewelry by LaCash

BY KINGKIM SEPTEMBER 27, 2013

Lenora Cash reached a low point in her life years ago with two, possible life ending, diseases on separate occasions. A point that many would see is bleak and emotional, became a point of rejuvenation and triumph for Lenora. After leaving her 20 year nursing career behind, due to her condition, she threw herself into her passion for culture and her love for jewelry. Through her passion and determination, Lenora survived both events and created a business through her journey

As a native of Charleston, she was born for the desire to learn about her culture, and through her line Jewelry by LaCash, she is able to share that knowledge and experience with women and men alike. Her handcrafted creations feature bold colors, shapes, and patterns themed around the rich histories and cultures of Africa. Lenora creates her pieces to influence people be the leader, not the follower, while creating your own style and identity.

Her story is truly an inspiration because not only is she an example of chasing your dreams, despite tragedy, but that it is possible to beat the odds and give others hope. With a pure heart and busy hands, the world is at her fingertips! Her extraordinary tale is definitely noteworthy and gives me chills every time! Check it out below!