CDG community

Here's a selection of information from patients & professionals to better understand CDG.

CDG resources

CDG Frequently Asked Questions

Here are some of the most frequently asked questions and their answers:

CDG Family Network FAQ's, Updated by Jaak Jaeken, MD, Ph.D. 07/27/11 

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Are there ever any long lasting effects?

These episodes can last for hours, days or sometimes even longer. However, the positive thing is that, as a rule, they are transient.

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Who is likely to have a stroke-like episode and when are they likely to occur?

In the CDG field all the patients with CDG-Ia have an increased risk for thrombosis because their blood platelets have an increased tendency to stick together and to stick to the wall of blood vess...

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What is the difference between a stroke-like episode and a seizure?

A seizure is the expression of an abnormal electrical activity in the brain (stroke is a vascular problem) but can resemble very much a stroke. Other words for “seizures” are “epilepsy” and “convu...

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What is a stroke-like episode?

A stroke-like episode is an acute event that very much resembles a stroke. A stroke is a sudden loss of consciousness due to an acute vascular disturbance caused by the rupture of an artery in the ...

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How many cases of CDG are known worldwide?

We have no exact figures but the published cases figure around 600 for the N-glycosylation disorders. There are many more patients reported with a known O-glycosylation disorder (multiple exostoses...

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CDG Patient Groups

These are patient organisations that have experience and expertise in CDG. They are supporters of this website. Contact them for more information on their activities.

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  • Portuguese CDG Assoc.

    The APCDG-DMR (Associação Portuguesa CDG e outras Doenças Metabólicas Raras) is a non-profit organization founded by parents providing information and support for a group of disorders known as Congenital Disorders of Glycosylation and for other Rare Metabolic Disease. The Association is involved in the identification, coordination and organization of various scientific and medical communication activities contributing to the improvement and enhancement of understanding and awareness of CDG Syndrome and related Rare Metabolic Diseases. The Association coordinates activities such as, Conferences and Scientific Cafés in various areas such as the nanotechnology, epidemiology, orphan drugs, etc. The aim of these activities is to establish a relationship between scientists and society, to contribute to scientific debate and to increase media coverage of different aspects of rare diseases. Furthermore, collaborations with researchers, care professionals and therapists are being developed in order to promote CDG knowledge and awareness and improve the quality of life and outcomes for patients with CDG. http://sindromecdg.blogspot.com/ http://www.facebook.com/pages/SINDROME-CDG/135220796488836?ref=search

    Contact Portuguese CDG Assoc.

  • CDG Family Network

    Founded in 1996, The CDG Family Network is a non-profit 501 (c)(3) organization founded by parents seeking information and support for a group of disorders known as CDG (Congenital Disorders of Glycosylation). We exchange information with families and physicians, locate new families and raise awareness among the medical community. Our organization fosters communication among families. We accomplish this task through a variety of ways that include our website, family conferences, parent directory, and e-mail listserv.

    Contact CDG Family Network

  • Spanish CDG Assoc.

    Asociación Española del Síndrome CDG (AESCDG) This is a non-profit association of parents and families affected with CDG, with the aim of provide appropriate information about this syndrome and defend the interests of this community. http://www.facebook.com/group.php?gid=47286836357

    Contact Spanish CDG Assoc.

  • Foundation Glycosylation

    Foundation Glycosylation (the FoG) was established in the Atlantic Canadian province of New Brunswick. The non-profit foundation supports research for the development of therapies targeting CDG, aims to raise awareness of the disorder and strives to advocate for individuals living with this enzyme deficiency. The FoG was established by the family of a young girl living with CDG-1L (ALG9-CDG) with the support of the Saint John Regional Hospital Foundation and is currently supporting the collaborative research of scientists at the University of New Brunswick, Dalhousie University and the Saint John Regional Hospital.

    Contact Foundation Glycosylation

  • Glycokids Germany

    An important task of the Federal Association CDG Syndrome Association is concerned families about these metabolic disease and to inform each other to get in touch. Every year this takes place a pan-European family meetings to promote exchanges between families across countries. In addition, the Federal Association request an information brochure for affected families and doctors have released to compact to inform about the current state of knowledge of the different types of CDG syndrome.

    Contact Glycokids Germany

  • P'tits CDG France

    Les "P'tits CDG" est une association de parents oeuvrant pour et avec les familles touchées par le CDG Syndrome. Sa vocation est multiple : - Elle permet aux familles concernées de se rencontrer, de partager leur expérience, d'avoir une écoute attentive et bienveillante, - Elle organise des événements pour ces familles et leurs enfants, - Elle relaie les autres initiatives : autour du CDG Syndrome spécifiquement, ou autour des atteintes cérébelleuses plus généralement, L'objectif est de nous positionner en complément du tissu associatif déjà existant autour de ce type de handicap afin d'y apporter une dimension humaine basée sur les rencontres et les échanges entre familles concernées par la maladie. D'autre part, notre champ d'action ne se limite pas au territoire français et vise à capitaliser sur toutes les initiatives prises par les associations-amies à l'étranger (Espagne, Portugal, USA, Allemagne,...). Des partenariats, des échanges et des événements sont également organisés avec ces relais. Enfin, sans focaliser son action sur la recherche, "Les P'tits CDG" cherche à établir une relation bilatérale avec le monde médical : se faire le relais d'avancées ou d'informations médicales pertinentes et promouvoir son action après des professionnels au contact des familles.

    Contact P'tits CDG France

  • CDG UK

    CDG UK patient representative: Tim Jardine [email protected]

    Contact CDG UK

  • CDG Brazil

    My name is Adriana Maciel. I am the Brazilian CDG patient Representative. I hope that many other families will contact us and share information and experiences with us. My e-mail address is the following: [email protected] O meu nome é Adriana Maciel. Eu sou a representante de pacientes CDG no Brasil. Eu espero que muitas outras famílias entrem em contato conosco e partilhem informações e experiências. O meu e e-mail é o seguinte: adriana.t.maciel @gmail.com

    Contact CDG Brazil

  • CDG Australia

    Australian CDG Patient representative Merell Liddle: [email protected]

    Contact CDG Australia

  • CDG Netherlands

    Bas Holten [email protected] Noelle Schmitz: [email protected]

    Contact CDG Netherlands

  • CDG Ecuador

    Ernesto: [email protected] Alejandra: [email protected]

    Contact CDG Ecuador

  • CDG Argentina

    Centro de Estudio de las Metabolopatías Congénitas (CEMECO) Facultad de Ciencias Médicas, Universidad Nacional de Córdoba (UNC) Cátedra de Química Biológica Facultad de Medicina, Universidad Católica de Córdoba (UCC) Adress: Hospital de Niños de la Santísima Trinidad Ferroviarios 1250. CP X5014AKN, Córdoba. ARGENTINA Phone: 54 351 4586473 Fax: 54 351 4586434/39

    Contact CDG Argentina

  • CDG Denmark

    Den Danske CDG forening har til formål, at danne netværk mellem familier med sygdommen. Foreningens medlemmer mødes til familieweekend en gang om året. Her bliver der holdt kurser og foredrag for forældre med relevante emner. Familieweekenderne er et vigtigt samlingspunkt for familierne, med lige dele fagligt indhold og socialt fællesskab.

    Contact CDG Denmark

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CDG Documents

Resources, documents and detailed informations on CDG. In this section you can download brochures, ask for printed documents or find useful links.

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CDG Articles

Most recent articles:

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Congenital Disorders of Glycosylatione (CDG): the Italian experience in the Euroglycanet network (2005-2010)

CDG are characterized by global developmental delay of variable degree and possible occurrence of central nervous system malformation, mainly cerebellar atrophy. Also, dysmorphic features, acquired...

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PROGRAMA ARGENTINO DE DIAGNÓSTICO E INVESTIGACIÓN DE DESÓRDENES CONGÉNITOS DE GLICOSILACIÓN (ES)

Nuestro protocolo de estudio, comienza  a partir de la sospecha  clínica en un paciente que ingresa a nuestro centro o que es derivado desde otros hospitales nacionales o incluso l...

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Researcher profile: Dr Paz Briones

My work on CDG started in 1997 and since then I have participated in several European projects, like EUROGLYCAN (2000 – 2003) and EUROGLYCANET (2005-2008), that aimed to improve early diagnos...

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CDG International Awareness Symbols

The CDG Symbol is a non-commercial symbol of global partnership as we continue to search for ways to spread awareness and improve the lives of those affected by CDG, we ask only that the symbol be ...

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Diagnostic innovations for the Congenital Disorders of Glycosylation

After exclusion of secondary causes, it still can be a major challenge to identify the specific CDG subtype. As known, the major subtype CDG-Ia (PMM2-CDG) can quickly be diagnosed using an enzyme a...

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CDG Events

Most recent events:

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  • January 2012

  • 2nd Latin American Meeting of Congenital Disorders of Glycosylation

    From 1 January to 31 December 2012

    We expect to see you at the 2nd Latin American Meeting of Congenital Disorders of Glycosylation to be held in Cuernavaca, México in 2012 !!

    More info

  • February 2012

  • 3rd Annual Sanford-Burnham Rare Disease Symposium

    On 24 February 2012

    This year’s event, organized by Dr. Hudson Freeze, will focus on Glycosylation-Based Disorders: Discovery, Patients, and Progress Toward Treatments.

    More info

  • 5th International Rare Disease Day 2012

    From 29 February to 1 March 2012

    February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries.On this day hundreds of patient organisations from more than 40 countries worldwide are organsing awareness-raising activities converging around the slogan “Rare but strong together”. Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! United States participants can find more information here: http://rarediseaseday.us/

    More info

  • 1st International Congress on Research of Rare and Orphan Diseases

    From 29 February to 2 March 2012

    Gebert Rüf Stiftung and BLACKSWAN Foundation, both active in supporting research activities in the field of rare diseases, are preparing the first “International Congress on Research of Rare and Orphan Diseases – RE(ACT)” in 2012. It will take place at the Gehry Building on the Novartis Campus, Basel/Switzerland from February 29th to March 2nd 2012. A superb setting for stimulating learning, exchange and networking. The “RE(ACT) Congress 2012” will bring together world leaders and young scientists from both university and industry to present cutting edge research, to discuss results and to exchange ideas.

    More info

  • March 2012

  • Second ASID Congress of the African Society for Immunodeficiencies

    From 8 to 11 March 2012

    Since its birth in Casablanca and during the last two years, ASID has been very active establishing a network involving colleagues of different regions of Africa including North, West and South African countries. Four schools have been already organized in Casablanca, Dakar and Johannesburg. This second congress will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.

    More info

CDG community news

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    Finding the cause of Liam’s metabolic disease
    News, published 17 days ago

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    In the study, researchers at Emory University School of Medicine and Sanford-Burnham used whole-exome sequencing to find the mutations causing a glycosylation disorder affecting Liam, a boy born in 2004.

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    Todavía hay muchos horizontes por conquistar en los DCG (ES)
    News, published 27 days ago

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    Los principales retos son continuar describiendo fenotipos y desarrollar un modelo animal que permita investigar en posibles tratamientos.

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    Clinicaltrials.gov
    News, published about 1 month ago

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    No current trials for CDG here but check back for future trials.

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    CDG Fairytale
    News, published about 1 month ago

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    Available in 4 languages

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    Severe congenital disorder successfully treated in a mouse model for the first time
    News, published about 1 month ago

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    Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed.

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    Entrevista de radio del Presidente de la asociación portuguesa de CDG (ES)
    News, published about 1 month ago

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    Doenças raras

    Convidado: Vanessa dos Reis, Associação Portuguesa CDG e outras Doenças Metabólicas Raras

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    EuroGEN Test
    News, published 5 months ago

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    EuroGentest2 is a Coordination Action funded by the 7th Framework of the European Commission. The project is organised in 3 Units looking at all aspects of genetic testing.

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    Guia Metabólica
    News, published 5 months ago

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    En el momento actual, nuestra unidad esta compuesta por más de 15 especialistas en diferentes áreas de la neuropediatría, gastroenterología y nutrición, psicología, farmacia y bioquímica, que cuentan además con el apoyo de otras especialidades pediátricas...

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    CDG Registry
    News, published 6 months ago

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    EUROGLYCANET:a European network that aimed on the advancement of research, diagnosis and treatment of CDG, was created in 1999 and has been supported by the European Commission since 2000.

     

    The advantage of a network like  EUROGLYCANET is the close interaction between expert clinicians and specialised researchers. In addition, contributed to create a patient registry that will enormously contribute to: 

    1.  advance on CDG  knowledge: by boosting epidemiological, clinical or social research

    2.  Identify and monitore the care of patients

    3. To potentiate collaborations directed to possible treatments

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    Nijmegen Center for Disorders of Glycosylation
    News, published 6 months ago

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    This website from the Nijmegen Center for Disorders of Glycosylation (NCDG) has been established to provide information on congenital disorders of glycosylation (CDG) for patients with CDG, parents, professionals and people otherwise interested in CDG. Behind the scenes of this website, a team of clinically involved people and researchers at the Radboud University Nijmegen Medical Center daily focuses on early diagnosis and treatment of patients with CDG and find ways to improve their quality of life.

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