Results of a comprehensive survey of adults with SMA II conducted by the Danish centre of excellence in neuromuscular rehabilitation are being published on their web site. Approximately 80% of the adult Danish population with SMA II has completed the survey. There will not only be numeric information, but perspectives on the everyday life of those with SMA II. Click here for link.

Friedreich's Ataxa (FA).

The Friedreich's Ataxia Research Alliance is creating a registry for those diagnosed with FA. This registry will be a source for information on clinical trials studying FA. A nine-center study is getting underway to examine the natural history of FA and to identify biological markers that reflect the severity of the disease. Click here to go to the registry web site.

Consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation

For a summary of the recommendation of the multidisciplinary panel convened by the American College of Chest Physicians' Pediatric Chest Medicine and home Care NetWork click here.

New York Times coverage of Duchenne muscular dystrophy treatment

The February 20, 2008 issue of the New York Times had a front page article by Reed Abelson titled, “Lacking Cure, a New Tack on a Muscle Disease”. The article gives an interesting overview of the status of various approaches to the treatment of Duchenne muscular dystrophy and the work toward establishing a consistent standard of care for the disease. A companion article, “Research Centers on Finding New Drugs,” discusses clinical trials which are examining several different approaches to managing Duchenne muscular dystrophy.
To see the complete articles click on the following links: "Lacking Cure, a New Tack on a Muscle Disease” and “Research Centers on Finding New Drugs"

Chronic Pain in Persons with Facioscapulohumeral Dystrophy (FSHD) and Other Neuromuscular Disorders (NMD)

R. Ted Abresch, Director of Research for the RRTC on Neuromuscular Diseases, presented information on pain in FSHD and other NMD at the 2007 meeting of the FSHD International Research Consortium in San Diego, California. Click here for a link to the Power Point presentation. To view the program and abstracts of other presentations, click here.

Duchenne Muscular Dystrophy: University of California, Davis, Recommendations for Care

For an outline of the recommendations for the standard of care for Duchenne muscular dystrophy that is used at the UC, Davis Department of Physical Medicine and Rehabilitation click here.

Spinal Muscular Atrophy Consensus Statement for Standard of Care

A committee formed by the National Institute of Neurological Diseases and Stroke sponsored an International Spinal Muscular Atrophy Conference published a statement of recommendations for the care of those with spinal muscular atrophy. Journal of Child Neurology. 2007 Aug;22(8):1027-49 . PubMed citation with abstract

NORD: Rare Disease Community

The National Organization for Rare Disorders, Inc. (NORD) has recently created a web site where those with rare diseases can share information and meet others in similar situations..

Duchenne Muscular Dystrophy Conference

On July 30, 2007 the Rehabilitation Research and Training Center in Neuromuscular Diseases presented updates on the status of research on Duchenne muscular dystrophy (DMD). Click here for further information and copies of the slide presentations.

Guide to Neuromuscular Diseases for Rehabilitation Counselors

The Education of Children with Neuromuscular Disease: A Guide for Teachers and Parents

Guide for parents and teachers of children with neuromuscular diseases is now posted on this web site. Click here.

The March-April edition of Quest published by the MDA has an article on "Building the IEP Puzzle" that supplements the information in the NMD Guide for Teacher's and Parents.

Anti-inflammatory Compounds and Muscular Dystrophy: Animal Studies

Clinical Trials - Duchenne Muscular Dystrophy

There are several new clinical trials getting underway to study genetic defects that are found in Duchenne muscular dystrophy (DMD). Two will study drugs that will prevent the action of a “stop codon” and the other will examine a drug that promotes exon skipping. With both of these abnormalities the muscles lack functional dystrophin molecules. Click here for Information on these trials.

Aerobic and Resistive Exercise Training References

There has been an update to the references on studies of aerobic exercise training and resistive strengthening exercise training. A listing of studies conducted from 2001 to March 2007 is included in the listing of publications from the State of the Science Roundtable that was held in 2001. Click here for the reference list.

Cochrane Collaborative Review: Surgery for Scoliosis in Duchene Muscular Dystrophy

In January 2007 the Cochrane Collaborative published a review of the literature published through January 2006 reporting the use of surgery for the correction of scoliosis in boys with Duchenne muscular dystrophy. The conclusion of the review is that, due to the lack of randomized clinical trials studying this procedure, no evidence-based recommendation can be made for clinical practice. Patients should be aprised of the benefits and risks of the surgery and randomized controlled trials should be conducted. (Cochrane Database Syst Rev. 2007 Jan 24;(1))

Facioscapulohumeral Dystrophy (FSHD)

The March-April 2007 issue of “Quest” published by the Muscular Dystrophy Association (Vol. 14, No.2:28-34) contains an interesting article on facioscapulo-humeral dystrophy (FSHD). The article, titled “Impossible Things; Through the Looking Glass with FSH Dystrophy Researchers,” gives a summary of the history of FSHD research and an explanation of some of the genetic areas being studied. It is an interesting overview of the research process for FSHD. Click here for a link to the complete article.

Facioscapulohumeral Dystrophy(FSHD) and Blood Vessels

An article in the journal Neurology (2007 Feb 20;68(8):569-77), reports the possibility of a genetic link to the blood vessel abnormality in the retina of patients with FSHD. On performing gene analysis of 19 patients with FSHD and comparing the results with analysis of 12 patients with myotonic dystrophy and 30 healthy individuals, researchers Charles Thornton and Rabi Tawil at the University of Rochester found that 44 genes were specifically upregulated (too many copies of the gene) in FSHD. Of these upregulated genes, about one third were associated with the muscles of blood vessels. This may be a clue to a link between FSHD and blood vessel problems in the eye (retina) that are often seen in FSHD.

Below is a link to a printable, pdf version of the Winter 2006-2007 RRTC newsletter.
Winter 2006-2007 Newsletter

Featuring information on Facioscapulohumeral Muscular Dystrophy

To view the Table of Contents and browse selected items in the Winter 2006-2007 newsletter, see the Table of Contents

A line of golden retriever dogs (GRMD) exhibits clinical and pathological signs of muscular dystrophy that are similar to those seen in boys with Duchenne muscular dystrophy. The results of stem cell transfer experiments in these dogs were released as an advance online publication in the journal Nature on November 15, 2006. This study by a group of Italian researchers showed that it is possible to transplant stem cells into the dogs and that some of the muscles did produce dystrophin. The results varied between different dogs and different treatments, but the walking ability was preserved in several of the dogs. Generally, these GRMD dogs lose this ability at about 8 months of age and die by the age of one year. For futher information click here.

The first is “A Teacher’s Guide to Neuromuscular Disease.” This 30-page booklet expands on the information presented in the 1995 MDA publication by the same name. It will be valuable for those teachers who have students with NMD in their classroom. It covers information about NMD and how the various NMD can affect the students. It also gives insight into how the student with NMD can affect others in the class room.

The second recent publication is “Breathe Easy: Respiratory Care in Neuromuscular Disorders.” Weakened respiratory muscles as a result of NMD may lead to serious complications in those with NMD. This booklet covers basics of respiration with the symptoms that can indicate chronic under ventilation, various treatments and methods of assisted ventilation and ways in which quality of life can be affected. Dr. Joshua Benditt, a researcher at our Rehabilitation Research Training Center, was a special consultant on this publication.

Both booklets are available from the MDA and are available on the MDA Web site in both English and Spanish versions.

“A Teacher’s Guide to Neuromuscular Disease” http://www.mdausa.org/publications/tchrdmd/

“Breathe Easy: Respiratory Care in Neuromuscular Disorders” http://www.mdausa.org/publications/breathe/

Featuring information on Duchenne and Becker Muscular Dystrophies

Link to downloadable PDF version

To view the Table of Contents and browse selected items in the newsletter, see the Table of Contents

Read about it here.

Full Article

1. A report on the use of corticosteroids for treatment of DMD
2. Genetic engineering in Duchenne muscular dystrophy