Arthrogryposis Research, TAG

Autosomal Recessive Arthrogryposis

Further to the article in a previous edition of TAGTalk regarding research into a gene for Multiple Pterygium Syndrome, the paper has now been published. Professor Eamonn Maher of Birmingham University, one of the researchers, has sent TAG a copy of this, together with another paper on the same gene published by a German group of researchers. If you would like a copy, please contact Sharon in TAG's office.

According to Professor Maher&ldots; " We think that it will account for about a third of children with Multiple Pterygium Syndrome, but it could also be involved in children who have *Autosomal Recessive Arthrogryposis without webbing so we would be happy to receive samples from such children&ldots;"

If you or a member of your family has Autosomal Recessive Arthrogryposis without webbing and you are interested in taking part in the research at Birmingham University, again please contact Sharon in TAG's office.

* Autosomal recessive inheritance is where an abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from each parent is required to cause the condition. People with only one abnormal gene in the gene pair are called carriers, but since the gene is recessive they do not exhibit the condition. In other words, the normal gene of the pair can supply the function of the gene so that the abnormal gene is described as acting in a recessive manner. BOTH parents must be carriers in order for a child to have symptoms of the Distal Arthrogryposis. A child who inherits the gene from one parent will be a carrier.

Eye Problems in Arthrogryposis

Dear TAG members

I am Dr Obi, a medical doctor currently training in Ophthalmology (the study of the human eye and visual system).

I am interested in finding out:

1. What proportion of people with Arthrogryposis has eye problems

2. What proportion of people with Arthrogryposis does not have eye problems

Through a survey I would like to find out if there are any groups less likely to have eye problems or if specific groups are more susceptible to having eye problems. Retaining good sight is always helpful in maintaining independence as well as in physical rehabilitation. Should this survey reveal any new findings, or identify those particular groups more susceptible to eye problems, the findings and recommendations will be published medically. This will be done in order to inform medical doctors to be alert and pick up these eye problems before they cause significant visual loss.

Many thanks for your input.

Dr Ebube Obi

N.B. Ebube presented her findings thus far at the TAG Weekend and Conference and member feedback was very positive. However, Ebube needs more survey returns in so that any published findings will be more accurate and more valid. So please do contact Sharon for a questionnaire which can be sent to you in paper form or via email.

Medical Papers and Reports Available From TAG

New medical papers:

- Upper Limb Surgery in Arthrogryposis by Ulrich Mennen et al, October 2005, and commissioned by the International Federation of Societies for Surgery of the Hand

- Transfer of Pectoralis Major in Arthrogryposis to Restore Elbow Flexion by O Lahoti and MJ Bell, Sheffiled Children's Hospital, September 2004

'Arthrogryposis' - A Text Atlas. Edited by L. Staheli, J. Hall, K. Jaffe, D. Paholke

The book is edited primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and is an invaluable resource for both families of affected individuals and health care professionals. The book is easy to read and has many photographs.

USA:

Luca "Lazylegz" Patuelli on syntynyt Kanadassa ja sairastaa AMC:a. Sairaus ei ole kuitenkaan estänyt häntä tekemästä asioita, joiden lääkärit väittivät olevan mahdottomia!

Lucalle on tehty yhteensä 26 leikkausta jalkoihin ja selkärankaan.

Kannattaa ehdottomasti katsoa tästä lisää!!                            Video!

UK:

The International TAG Weekend & Conference 2007 21.-23.9. Leicestershire

International AMC Symposium 20.-21.9 2007 Birmingham - lääkäreille ja terapeuteille

Toivottavasti saamme infoa tapahtumien jälkeen TAG -yhdistykseltä

Norja:

AMC'er fikk Equalitasprisen!

BPA-rådgiver i ULOBA og tidligere nestleder i AMC-foreningen, Stig Morten Sandvik er tildelt Equalitasprisen. Les mer...

Landsmøte i NHF

Mens gradestokken krøp langt oppover mot 30-tallet på gradestokken, og fredagen 8. juni var et faktum var det nok en gang tid for landsmøte i NHF. Les mer...

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Tiivistettynä Norjan AMC-yhdistyksen uutisia:

·        Yhdistyksen edellinen varapuheenjohtaja Stig Morten Sandvik palkittu Lisää...

·        Juttua yhdistyksen kokouksesta 8.6.07

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