Wednesday, September 30, 2009

Standing In Line for Vodka for FSH research?

Yep, Dan Akroyd was in Seattle promoting his "Crystal Head" triple filtered vodka.... I stood in line (among other fans) to have a bottle signed.

Go see the Youtube video ..... tells his story, or the story of the head.

It wasn't quite the star interaction I had imagined....some how I thought he might be interested in our cause & that this Vodka would be auctioned off at a charity event. But, it really was "just marketing." No funny jokes, no Akroyd humor or funny bits, just head down & sign the bottles, an assembling line.

I even gave him our very old, hand-made "Ghost Busters" costume that Brian had worn for Halloween more than 15 years ago - I thought he might get a laugh out of that!

Anyway the autographed head will be sold at our auction - come bid on the head & make it yours!

Tuesday, September 29, 2009

Lucy's Blog - What is FSHD (or FSH)

Here is a recent posting from Australia - Lucy gives a great, easy to understand description of what Facioscapulohumeral Muscular Dystrophy is and how it affects those that live with it daily.
To follow Lucy's blog go to

Ok I realise I have been blabbing on about FSHD bit not really giving and details so here goes

So What is FSHD?

  • Full Steam aHeaD?
  • FreSH iDeas?
  • Fully Secured Holiday Destinations? (That would be nice!)

However it’s none of the above FSHD is a form of muscular dystrophy that apart from having a long name probably has the wrong name. FSHD is an acronym for Facio-Scapulo-Humeral dystrophy. Bizarre-I know! Facio means face, scapulo means shoulder blades and humeral means arms (not humorous, which would have been much better- having a disease that makes you laugh). Unfortunately for many of us the condition is not limited to the face, shoulder and arms, it includes legs, abdominal muscles and neck. I guess those that named the condition ran out of steam.

So what actually is FSHD???

Well, it is a muscular dystrophy that usually commences in adolescence. Over time it causes weakness and wasting of the muscles. There is currently no treatment or cure. Weakness of the face muscles means that gradually a person with FSHD can loose their ability to smile properly- they can often look sad or cross without meaning too. This can of course have big psychological effects. They can’t raise their arms above their head which makes simple things like washing their hair, reaching for the top shelf difficult, As I mentioned it can affect the neck muscles, making it difficult to hold up their head. It affects tummy muscles giving them a pot belly (terrible to look pregnant when you’re not!) Perhaps most devastatingly, it can affect the legs. This gives a foot drop which means they often need to wear a leg brace (no Jimmy Choo shoes for us!) and may ultimately end up in a wheelchair.

FSHD is complicated disease that presents differently in every person. This is however intriguing to researchers and there is currently much excitement, in the scientific community. The FSHD-Global Research foundation is funding an unprecedented amount of research into FSHD, which is very exciting for those of us with the disease. Research is expensive though and requires a lot of money. You can support FSHD research by donating at the website at FSHD, or sending someone a gorgeous chocolate bouquet from Better Than Flowers. Watch out for new fundraising ventures with Australias Biggest Book Group relaunching in November, Champagne on Thursdays and a chocolate ball next year.

That’s all for now

Keep happy, well and if you must, scoff some chocolate


Thanks Lucy for the easy to read explanation - good luck to the Global Research Foundation & your "Better Than Flowers" venture! Wish you were here in the Northwest!


123 Days and Counting

Our annual event is only 123 days away.... time moves fast from here on till the auction. Every day I need to contact past donors to ask for their continued support & ask them to donate to this year's event. Since I really don't like being on the phone this is a bit of a challenge for me. To be able to raise the funds necessary to get another researcher interested in FSH research or support FSH research that is in need of additional funding, I must make the calls & get people to attend the event.

A big development occurred last week - the Hyatt in Bellevue has just completed a new tower complete with a new Grand Ballroom - they gave us the opportunity to move into the new space for this year's auction!! The new space it is amazing - tall ceilings with huge glass chandeliers. This should be a chance for us to hold an amazing event full of elegance & wonderful foods, at a reasonable price.
Our prior issues with poor lighting & crowding should be corrected in this new space.

Monday, September 28, 2009

Gmail - Press Release Ready for Circulation:Please get the word out any way you can today. -

The "Wibbey" Award Gala ~

Eastside Women in Business Event - Queen of Hearts Gala Coming Soon!!

Friends of FSH Research have been honored by this organization to be named the charity partner for this year's Queen of Hearts gala. Proceeds from this event will help to support important Facioscapulohumeral Muscular Dystrophy research. Read complete details in new press release!

Learn more about this organization at

Friday, September 25, 2009

FSHD - Study Released

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4
Repeats Associated with Facioscapulohumeral Dystrophy (FSHD)

by: Weihua Zeng, Jessica C. de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C. Gregson, Sara T. Winokur, April Pyle, Keith D. Robertson, John A. Schmiesing, Virginia E. Kimonis, Judit Balog, Rune R. Frants, Alexander R. Ball, Leslie F. Lock, Peter J. Donovan, Silvère M. van der Maarel, Kyoko Yokomori

Author Summary: Most cases of facioscapulohumeral muscular dystrophy (FSHD) are associated with a decrease in the number of D4Z4 repeat sequences on chromosome 4q. How this leads to the disease remains unclear. Furthermore, D4Z4 shortening is not seen in a small number of FSHD cases, and the etiology is unknown. In the cell, the DNA, which encodes genetic information, is wrapped around abundant nuclear proteins called histones to form a "beads on a string"–like structure termed chromatin. It became apparent that these histones are modified to regulate both maintenance and expression of genetic information. In the current study, we characterized the chromatin structure of the D4Z4 region in normal and FSHD patient cells. We discovered that one particular histone modification (trimethylation of histone H3 at lysine 9) in the D4Z4 repeat region is specifically lost in FSHD. We identified the enzyme responsible for this modification and the specific factors whose binding to D4Z4 is dependent on this modification. Importantly, these chromatin changes were observed in both types of FSHD, but not in other muscular dystrophies. Thus, this chromatin abnormality at D4Z4 unifies the two types of FSHD, which not only serves as a novel diagnostic marker, but also provides new insight into the role of chromatin in FSHD pathogenesis.

Tuesday, September 22, 2009

New Design -

Please check out our newly redesigned website - we look forward to your feedback!!

Many thanks to our web guru!

Regenerating Muscle?

To regenerate muscle, cellular garbage men must become builders

September 22nd, 2009 To regenerate muscle, cellular garbage men must become builders

This microscopy image, taken ten days after injury, shows that the muscle fibres of normal mice (top) had re-grown, while in mice which couldn’t boost C/EBP production (bottom) there were still many fibres that had not regenerated (arrowheads), and the tissue had a number of scars (arrows).

Read complete article

Monday, September 21, 2009

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

Michael Kyba is one of the researchers that has been funded by Friends of FSH Research.
Here is a recent publication about FSHD research he has been involved with funded by the FSH Society & MDA.

- Differences between Multiple Sclerosis and Muscular Dystrophy?

Differences between Multiple Sclerosis and Muscular Dystrophy?

So often as I talk to people about Facioscapulohumeral Muscular Dystrophy or FSH, they respond with "yes I had a friend with MS."
The confusion between MD (Muscular Dystrophy) and MS is understandable and wide spread.
Here is a helpful article describing both conditions, noting their similarities & differences.

This article may not speak to every single detail or symptom of either condition - but gives a broad understanding.

Sunday, September 13, 2009

Imagine - Receiving an Unexpected Diagnosis


A child, your healthy child, Diagnosed with FSH Muscular Dystrophy: Shock, confusion--

Dreams, plans, future Changed, obstructed, gone.
It could happen to anyone -- Any child, any grandchild, anyone.

Random chance chooses....One-quarter of those with FSH

A future life altered by chance alone.
A miscue, a misstep when chromosomes divide; the fetus grows, the hidden problem revealed

Muscles weaken, abilities decrease
Opportunities evaporate
Life changes forever.

But we can make a difference
Give hope, restore Dreams and plans, Renew hope for the future
With research.


Saturday, September 12, 2009

New Website - Take a Look!

Please take a look at our new look - Let us know your thoughts & recommendations!

**Many thanks to our wonderful webmaster for his dedication & hours of working on this project.

Friday, September 11, 2009

New Website - Friends of FSH Research

A New Website is hatching.... announcement will made soon when it is LIVE!

(Please -Let us know what you think of the new look & format)

Donations are much needed for our fundraising event on January 30th - Let us promote your art or business at our event! Contact me at or 425-827-8954.
Thank you!

NIH Grant Submitted - Seattle & the Field's Center

In the Spotlight:

The Fields Center's Expanding Collaborations

The researchers YOU, our donors & supporters have helped to fund are moving forward - they are collaborating to make sure your FSH research dollars are effectively used. We hope to hear if this NIH grant is awarded by the end of the year - we will let you know!!

Thank you for your support.

A grant application was sent to NIH in May 2009 that includes several collaborative projects on FSHD to be conducted by the Fields Center in collaboration with the Fred Hutchinson Cancer Research Center in Seattle. This application will solidify the Fields Center’s collaboration with Dr. Stephen Tapscott’s laboratory in Seattle as well as bring in two additional research groups at the Fred Hutchinson Cancer Research Center solidly into the FSHD research arena. We are very hopeful that this proposal will be funded because of the strength of the research data presented and the fact that the Field Center provides the necessary infrastructure to assure the success of this venture. If funded, this project will significantly boost the research efforts into finding the cause of FSHD and the development of a rational approach to treatment.

Wednesday, September 9, 2009

Acceleron News - Hope for Muscle Building Agent

Acceleron Pharma's ACE 031 shows promise.

Acceleron Pharma's ACE-031 Increases Lean Body Mass in Phase 1 Single Dose Clinical Trial

September 2, 2009


Acceleron Pharma, Inc., a biopharmaceutical company developing novel therapeutics that modulate the growth of cells and tissues including red blood cells, bone, and muscle, today announced preliminary results from the ACE-031 Phase 1 single dose clinical trial indicating that ACE-031 was safe and well-tolerated at all dose levels and increased lean body mass. The results from this randomized, placebo-controlled study will be presented at the 14th International Congress of the World Muscle Society taking place in Geneva, Switzerland, September 9-12, 2009. In addition, Acceleron announced that it has initiated a multiple dose Phase 1 clinical trial for ACE-031.(...Read complete article)

Sunday, September 6, 2009

Jeff Chamberlain Interview

Friends of FSH Research scientific advisory committee's co-director Jeff Chamberlain interviewed in Xconomy Seattle edition.

Posted: 01 Sep 2009 02:20 AM PDT

writer Luke Timmerman

AVI Offers Glimmer of Hope for Muscular Dystrophy, Says UW Neuroscientist Jeff Chamberlain
Luke Timmerman 9/1/09

Jeff Chamberlain first heard about muscular dystrophy as a kid watching the annual Jerry Lewis telethon on Labor Day weekend. That TV program has been raising awareness for 43 years about this genetic disorder that breaks down muscles, eventually crippling and killing young boys and men, usually by their 20s.

(complete article)

Friday, September 4, 2009

Scott, MD - Presentation of a Patient with FSHD

Patient History

On TV, you always hear the Docs asking for their patient’s history so they can figure out what’s medically wrong with them. My addiction for medical dramas, ER and House, M.D., has influenced me to engage in a little roleplaying as I give my medical history to offer a better understanding of the symptoms of FSHD. (The following is a combined summary taken from my own doctor and therapy sessions, personal notes, and web definitions.)

Name? Scott

Age? 38 :-(

Sex? Yes please! (Sorry, couldn’t resist.) ahem, Male.

Weight? 120 lbs.

Allergic to any meds? No.

Taking any meds? Tylenol or Ibuprofen for occasional aches.

Date: 8/28/09


Patient is experiencing extreme muscle loss in multiple regions, including some respiratory. Ancient biopsy shows Facioscapulohumeral dystrophy. Diagnosed in 1992, able to live and function normally until early 2009. Due to severe progression, patient has stopped working and is on disability status.


Face: Despite a winning personality, patient has difficulty smiling. Eyelids do not close all the way unless he forces them shut. No problems sleeping though.

Neck: Patient says tilting head back is fine, but tilting back to front is a little hard. Weakened neck muscles.

Back: Patient’s back shows curving of the lower spine, resulting in slight protrusion of front abdominal. Patient has to make small balanced adjustments in his walking due to this curvature. There is also slight scapular winging.

Front: Physically, only loss of a couple abdominal muscles.

Respiratory: Patient has undergone pulmonary tests which showed a decline in functions, but nothing major to support mechanical assistance. Now has difficulty speaking for long periods. Not the case before. When fatigued, hard to enunciate, but speech therapy not necessary. Patient has concerns about chest congestion if he develops pneumonia or the flu. Has a harder time clearing his throat if there is blockage, also sneezing is not as forceful as it used to be.

Arms: Patient has severely lost strength in upper muscle regions on both arms. Lower arms have more strength. Patient also reports stiffness and occasional aches. Cannot raise arms above head, nor is able to hold arms straight out.

Hands: Right hand (dominant) has weakened more than the left. Strains when making a fist and it is hard to grasp objects. Also experiencing arthritis in right fingers. Left hand seems to still be fully functional. Patient has readjusted well using his left hand for daily functions. However, upper arm weakness has made it difficult to lift or raise things. Still, adjustments have been made. Patient does show hostility though complaining of not being able to eat and drink like he used to, due to difficulty holding utensils or heavy cups for long periods. Prefers more finger foods now. (Note: culinary topics…very touchy subject.)

Legs: Again, patient has suffered major loss of the upper muscles as opposed to the lower. But oddly, the loss of muscles are not at all symmetrical. This holds true throughout the body. Left sides are a little stronger than the right. The patient noticed and made the adjustments to compensate. Patient can still bend and raise the left leg, but no longer the right. Both calves show normal strength which is probably why he can stand and walk with assistance. However, he cannot stand from a seated position nor can he lift himself up from a ground level.

Feet: Same result as the rest of the body. Left foot stronger than the right. Angling up and down strength still decent, as well as wiggling of the toes. Right foot: angling down is strong, but upwards is impossible. Toe movement is weak but possible.


There is no cure for FSHD. Though involuntary muscles are rarely at risk. Digestive, reproductive, cardiac, nervous system functions are not usually affected by this form of MD. The only treatment or course of action is making the proper adjustments at the patient’s home to adjust to his progressive condition. Wheelchair needs, walking aides, etc. Lack of strength and mobility to exercise means that the patient must maintain a proper diet to keep at his current weight. The heavier you are, the harder it is for others to help. Patient reports eating more vegetables, soy, and fruits to maintain. Also adds doses of Metamucil for added fiber. There are no muscle supplements that have been proven to work. A multivitamin is sufficient. Mucinex is suggested in times of chest colds and mucus congestion. Massage therapy and stretching has helped. Patient reports feeling more loose and able to function better for short periods after sessions. Joint tightness and curving can form if there is lack of movement. Make a concerted effort to stretch and flex to avoid chronic stiffness. Also recommended to take extended breaks if typing, exercising, or doing any form of strenuous activities.

Thank you Scott for letting me post this on my blog! To read more about Scott visit his blog.

Thursday, September 3, 2009

Volunteers - We Can't Make a Difference Without Them!

Time is Money

A new report by the Corporation for National and Community Service gives us cause to smile. Volunteerism rose by 2% in 2008, despite a faltering economy and reports of low monetary contributions to charities. Although it would be nice if we all had the means to increase our financial support to our favorite charities annually, it's important to remember just how valuable gifts of time truly are. In 2008, one hour of volunteer labor was worth an estimated $20.25. That can add up to a pretty respectable gift over time considering that the average annual household donation is somewhere around $2,000. So if you'd like to donate to your preferred charity but don't think you've got room in your budget, consider making a contribution of time instead. To get started, take a look at our Guide to Volunteering, check out charities that match your interests and contact them directly to see how you can help. Time is money!

Amis FSH Europe - Research News

FSHD Alert - September 1st

Exp Neurol, August 12, 2009; .
Engraftment of Embryonic Stem Cell-Derived Myogenic Progenitors in a Dominant Model of Muscular Dystrophy.
Radbod Darabi, June Baik, Mark Clee, Michael Kyba, Rossella Tupler, and Rita C R Perlingeiro
Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas-TX, USA; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis-MN, USA.

Muscular dystrophies (MD) consist of a genetically heterogeneous group of disorders, recessive or dominant, characterized by progressive skeletal muscle weakening. To date, no effective treatment is available. Experimental strategies pursuing muscle regeneration through the transplantation of stem cell preparations have brought hope to patients affected by this disorder. Efficacy has been demonstrated in recessive MD models through contribution of wild-type nuclei to the muscle fiber heterokaryon, however to date, there has been no study investigating the efficacy of a cell therapy in a dominant model of MD. We have recently demonstrated that Pax3-induced embryonic stem (ES) cell- derived myogenic progenitors are able to engraft and improve muscle function in mdx mice, a recessive mouse model for Duchenne MD. To assess whether this therapeutic effect can be extended to a dominant type of muscle disorder, here we transplanted these cells into FRG1 transgenic mice, a dominant model that has been associated with Facioscapulohumeral muscular dystrophy.

Our results show that Pax3-induced ES-derived myogenic progenitors are capable of significant engraftment after intramuscular or systemic transplantation into Frg1 mice. Analyses of contractile parameters revealed functional improvement in treated muscles of male mice, but not females, which are less severely affected.
This study is the first to use Frg1 transgenic mice to assess muscle regeneration as well as to support the use of a cell-based therapy for autosomal dominant types of MD.
Permanent muscle weakness in MCArdle disease.
Aleksandra A Nadaj-Pakleza, Carlo M Vincitorio, Pascal Laforet, Bruno Eymard, Elisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, and Tanya Stojkovic
Muscle Nerve, August 7, 2009; .

Institute of Myology, Pitié-Salpêtrière Hospital, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salpêtrière Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed by muscle biopsy and genetic investigations. Two patterns of muscle weakness and wasting were noted: (1) proximal and symmetric in 5patients; and (2) asymmetric, mimicking facioscapulohumeral dystrophy (FSHD) in 4 patients. Computerized tomography scan showed fatty infiltration in the shoulder and pelvic girdle muscles. There was no clear correlation between genotype and the severity of muscle weakness.
Proximal muscle weakness appeared after the age of 40 years and affected 11% of subjects in our series of 80 McArdle patients. Among patients over 40 years of age, 37.5% had muscle weakness. Muscle Nerve, 2009.

Macrosatellite epigenetics: the two faces of DXZ4 and D4Z4.
Brian P Chadwick - Chromosoma, August 19, 2009; .
Department of Biological Science, Florida State University, 3090 King Life Sciences Building, Tallahassee, FL, 32306, USA,

Almost half of the human genome consists of repetitive DNA. Understanding what role these elements have in setting up chromatin states that underlie gene and chromosome function in complex genomes is paramount. The function of some types of repetitive DNA is obvious by virtue of their location, such as the alphoid arrays that define active centromeres. However, there are many other types of repetitive DNA whose evolutionary origins and current roles in genome biology remain unknown. One type of repetitive DNA that falls into this class is the macrosatellites. The relevance of these sequences to disease is clearly demonstrated by the 4q macrosatellite (D4Z4), whereupon contraction in the size of the array is associated with the onset of facioscapulohumeral muscular dystrophy.

Here, I describe recent findings relating to the chromatin organization of D4Z4 and that of the X-linked macrosatellite DXZ4, highlighting the fact that these enigmatic sequences share more than a similar name.
Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.
A Ottaviani, C Schluth-Bolard, S Rival-Gervier, A Boussouar, D Rondier, AM Foerster, J Morere, S Bauwens, S Gazzo, E Callet-Bauchu, E Gilson, and F Magdinier
EMBO J, August 19, 2009; 28(16): 2428-36.

Laboratoire de Biologie Moléculaire de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR 5239, UCBL1, Lyon Cedex, France.

The localization of genes within the nuclear space is of paramount importance for proper genome functions. However, very little is known on the cis-acting elements determining subnuclear positioning of chromosome segments. We show here that the D4Z4 human subtelomeric repeat localizes a telomere at the nuclear periphery. This perinuclear activity lies within an 80 bp sequence included within a region known to interact with CTCF and A-type Lamins. We further show that a reduced level of either CTCF or A-type Lamins suppresses the perinuclear activities of D4Z4 and that an array of multimerized D4Z4 sequence, which has lost its ability to bind CTCF and A-type Lamins, is not localized at the periphery. Overall, these findings reveal the existence of an 80 bp D4Z4 sequence that is sufficient to position an adjacent telomere to the nuclear periphery in a CTCF and A-type lamins-dependent manner.

Strikingly, this sequence includes a 30 bp GA-rich motif, which binds CTCF and is present at several locations in the human genome.
Biochem Biophys Res Commun. 2009 Aug 27.
Reduction of a 4q35-Encoded Nuclear Envelope Protein in Muscle Differentiation.
Ostlund C, Guan T, Figlewicz DA, Hays AP, Worman HJ, Gerace L, Schirmer EC.
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Muscular dystrophy and peripheral neuropathy have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved. Nuclear envelope protein p19A is a protein of unknown function encoded by a gene at chromosome 4q35. p19A levels are significantly reduced in human muscle as cells differentiate from myoblasts to myotubes; however, its levels are not similarly reduced in all differentiation systems tested. Because 4q35 has been linked to facioscapulohumeral muscular dystrophy (FSHD) and some adjacent genes are reportedly misregulated in the disorder, levels of p19A were analyzed in muscle samples from patients with FSHD. Although p19A was increased in most cases, an absolute correlation was not observed.

Nonetheless, p19A downregulation in normal muscle differentiation suggests that in the cases where its gene is inappropriately re-activated it could affect muscle differentiation and contribute to disease pathology.


for Amis FSH Europe

Web Site:

Recent FSHD research news posted by the Amis FSH Europe.