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Living with a rare disease

Edited by: Dr Segolene Ayme

The 28th February 2015 marks the eighth international Rare Disease Day coordinated by EURORDIS. The theme of Rare Disease Day 2015 is “Living with a rare disease” - paying tribute to the millions of families whose daily lives are impacted, and who are living day-by-day, hand-in-hand with rare disease patients.

Orphanet Journal of Rare Diseases publishes cutting-edge review articles to provide the rare disease community with up-to-date information on specific rare diseases. We hope to improve the lives of patients with rare diseases by expanding knowledge among health professionals and caregivers. This article collection summarises some of the most highly accessed review articles from 2014.

Collection published: 18 February 2015

  1. Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA...

    Authors: Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz and Martin B Delatycki
    Citation: Orphanet Journal of Rare Diseases 2014 9:184
    Content type: Review Published on:

  2. Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and...

    Authors: Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado and Pablo Lapunzina
    Citation: Orphanet Journal of Rare Diseases 2014 9:138
    Content type: Review Published on:

  3. Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or pr...

    Authors: Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero…
    Citation: Orphanet Journal of Rare Diseases 2014 9:130
    Content type: Review Published on:

  4. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this d...

    Authors: Maria L Lozano, Jose Rivera, Isabel Sánchez-Guiu and Vicente Vicente
    Citation: Orphanet Journal of Rare Diseases 2014 9:132
    Content type: Review Published on:

  5. Immunoglobulin G4- related disease (IgG4-RD) is a rare systemic fibro-inflammatory disorder (ORPHA284264). Although patients have been described more than 100 years ago, the systemic nature of this disease has...

    Authors: Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and Jochen Zwerina
    Citation: Orphanet Journal of Rare Diseases 2014 9:110
    Content type: Review Published on:

  6. Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Prote...

    Authors: Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard, Claus Buhl Nielsen, Tine Plato Hansen and Lilian Bomme Ousager
    Citation: Orphanet Journal of Rare Diseases 2014 9:101
    Content type: Review Published on:

  7. Respiratory bronchiolitis-associated interstitial lung disease (RB-ILD) is a rare, mild inflammatory pulmonary disorder that occurs almost exclusively in current or former heavy smokers, usually between the th...

    Authors: Alicja Sieminska and Krzysztof Kuziemski
    Citation: Orphanet Journal of Rare Diseases 2014 9:106
    Content type: Review Published on:

  8. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluore...

    Authors: May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, Annalisa Ciasulli, Christiane Buisson, Smail Hadj-Rabia, Andrea Diociaiuti, Carolina F Gouveia, Angela Hernández-Martín, Raul de Lucas Laguna, Mateja Dolenc-Voljč, Gianluca Tadini, Guglielmo Salvatori, Cristiana De Ranieri, Stephanie Leclerc-Mercier and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2014 9:76
    Content type: Review Published on:

  9. It is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the...

    Authors: Olivier Bonnot, Hans Hermann Klünemann, Frederic Sedel, Sylvie Tordjman, David Cohen and Mark Walterfang
    Citation: Orphanet Journal of Rare Diseases 2014 9:65
    Content type: Review Published on: