Monday, 18 August 2014

WHO DISCOVERED MUSCULAR DYSTROPHY?

Guillaume-Benjamin-Amand Duchenne (de Boulogne) discovered Muscular Dystrophy. In fact, the original name of this disease was Duchenne Muscular Dystrophy, named in his honor. He also discovered several other diseases such as Duchenne’s disease (Tabes dorsalis), Duchenne-Aran spinal muscular atrophy, Duchenne’s paralysis (Progressive bulbar palsy) and Duchenne-Erb paralysis.

Introduced a lot of new concepts
Duchenne de Boulogne, a French neurologist, was born on September 17th, 1806 in Boulogne-sur-Mer, France. He based his work primarily on the works of Luigi Aloisio Galvani, a famous Italian scientist and advanced the research to a great extent. Duchenne’s work has introduced a lot of new concepts in the field of neurology including the conductivity of neural pathways and the effects of lesions. He also introduced various modern diagnostics such as nerve conduction tests, deep tissue biopsy and clinical photography.


Introduced electrotherapeutics and electrophysiology
He attended a local college in Douai and later studied medicine. During 1827 to 1831, he worked under some famous physicians and neurologists of that time and he later on started to practice medicine. From 1835, he started to experiment with therapeutic “electropuncture”, a method in which electricity was used to stimulate muscle tissues. Although his methods were quite unorthodox, he was considered as one of the inventors of electrotherapeutics and electrophysiology.
His works are famous
He work included the famous “the Mechanism of Human Physiognomy”, which was a result of extensive research on how the muscles on a human face produces facial expressions. He published several works based on his findings and research. A lot of neurologists and scientists have been influenced by his work and have mentioned him in their research. For example, in his work “The Expression of the Emotions in Man and Animals”, Charles Darwin mentioned the works published by Duchenne.





Wednesday, 13 August 2014

BENEFITS OF STAYING ACTIVE

Having a safe plan and exercise regimen is key especially when you have a muscle wasting condition. Some exercises may not be appropriate to other types of muscular dystrophy. Muscular dystrophy is a degenerative muscle disease which means muscles cannot regenerate or repair normally.

Vigorous exercise can damage muscles permanently so mild and moderate exercise is advised because some types of muscular dystrophy affect the proper functioning of the heart e.g. DMD, BMD, LGMD, EDMD and myotonic MD.

Regular exercise can improve balance and proper coordination which eventually leads to a quality life. It is understandable when most people with MD do not want to exercise because of loss of muscle bulk and the awkward feeling of being heavy but that should not be a reason for one to be a couch potato.

WHAT TO DO:
  • First the best thing to do is talk to your healthcare provider be it a general practitioner, occupational therapist or physical therapist.
  • Never stop medication without consulting your doctor first.
  • To maintain flexibility and avoid cramping of muscles, stretching will do a perfect job here.
  • Do not strain yourself , take frequent breaks.
  • Do an exercise that you enjoy and if walking becomes difficult try swimming, cycling and chair activities.
  • If your fitness level is low, follow a short session of 10-15 minutes four to six days per week.
CAUTION:
  • Individuals with Myotonic MD, Myotonia congenita and paramyotonia congenita should not exercise in cold water.
  • Avoid exercising alone, drink plenty of fluids and avoid exercise in hot and humid conditions.
  • If the heart's pumping ability or rhythm is affected by the disease, sudden strenuous exercise could trigger an acute heart problem, respiratory problem or even death.
The benefits of exercise should out weigh the risks and a perfect exercise plan is one that suits your needs.

Monday, 11 August 2014

DUCHENNE MUSCULAR DYSTROPHY

Discovery of new form of dystrophin protein could lead to therapy for some Duchenne muscular dystrophy patients


Scientists have discovered a new form of dystrophin, a protein critical to normal muscle function, and identified the genetic mechanism responsible for its production. Studies of the new protein isoform, published online Aug. 10 in Nature Medicine and led by a team in The Research Institute at Nationwide Children's Hospital, suggest it may offer a novel therapeutic approach for some patients with Duchenne muscular dystrophy, a debilitating neuromuscular condition that usually leaves patients unable to walk on their own by age 12.

Duchenne muscular dystrophy, or DMD, is caused by mutations in the gene that encodes dystrophin, which plays a role in stabilizing the membrane of muscle fibers. Without sufficient quantities of the protein, muscle fibers are particularly susceptible to injury during contraction. Over time, the muscle degenerates and muscle fibers are slowly replaced by fat and scar tissue. Many different types of mutations can lead to DMD, some of which block dystrophin production altogether and others that result in a protein that doesn't function normally.
In 2009, a team led by Kevin Flanigan, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children's, published two studies describing patients whose genetic mutation was located in a exon 1, at the beginning of the gene. This mutation should have made natural production of functioning dystrophin impossible, resulting in severe disease. However, the patients had only minimal symptoms and relatives carrying the same mutations were identified who were walking well into their 70s. Muscle biopsies revealed that, despite the genetic mutations, the patients were producing significant amounts of a slight smaller yet functioning dystrophin. In the 2009 studies, Dr. Flanigan's group demonstrated that translation of this dystrophin did not begin in exon 1, as usual, but instead began later in the gene in exon 6, although the mechanism controlling this alternate translation remained unknown.
In their latest study, Dr. Flanigan's team has found the explanation. In order to utilize the protein-building instructions they carry, exons are first transcribed into a final genetic blueprint called messenger RNA. Under normal conditions, the messenger RNA is marked at its very beginning by a special molecular cap that is critical for recruiting ribosomes, the cellular structures responsible for translation of the gene into a protein. Most cases of DMD are due to mutations that interrupt the translational activity of ribosomes.

In explaining the mild symptoms seen in many patients with mutations in the first exons of the dystrophin gene -- including the group of patients they first described in 2009 -- the researchers have now demonstrated that dystrophin can be produced by an alternate cellular mechanism in which capping of the messenger RNA is not required. This newly described mechanism makes use of an internal ribosome entry site, or IRES, found within exon 5 in the dystrophin gene, allowing initiation of protein translation within exon 6 that can then proceed in the normal fashion along the rest of the gene.

"This alternate translational control element is encoded within the dystrophin gene itself, in a region of the gene that evolution has highly conserved," Dr. Flanigan said. "This suggests that the dystrophin protein that results from its activation plays an important but as of yet unknown role in cell function -- perhaps when muscle is under cell stress, one of the conditions under which IRES elements are typically activated."

Although clinical trials are currently investigating drugs to treat the more common gene mutations found in the middle of the dystrophin gene, no current therapies are specifically directed toward the approximately 6 percent of patients with mutations affecting the first four exons. Although many of these patients have relatively mild disease, many others have much more severe symptoms. If scientists could figure out a way to activate IRES in those patients, they may be able to produce enough dystrophin to lessen muscle degeneration, Dr. Flanigan said.
To study that possibility, his team is developing different approaches to trigger the IRES, using a new DMD mouse model they have developed. One of these approaches, called exon skipping, is based on the removal of an exon early in the gene in order to mimic the IRES-activating mutations found in minimally affected patients.

"Rather than intending this as a personalized therapy, we are developing this as a tool that could be used for all patients harboring a mutation within the first few exons of dystrophin," said Nicolas Wein, PhD, lead author of the new study and a postdoctoral scientist in the Center for Gene Therapy at Nationwide Children's. "Using this approach, we have already shown that we are able to restore running ability in our new mouse model of DMD. We hope to translate this into clinical trials in DMD patients in the future."

Via ScienceDaily, 10 August 2014.