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  1. Patients have been showing a growing interest in taking active participation in decision making, and having the opportunity to drive clinical investigation. This is more common for patients who have a rare dis...

    Authors: Pedro Valdivielso, Marta Jacinto, Guillemette Devernois, Jorge Laplana, Maria García-Fernández and Ludovic Martin

    Citation: Orphanet Journal of Rare Diseases 2021 16:71

    Content type: Position statement

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  2. Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATT...

    Authors: David Rintell, Dena Heath, Florencia Braga Mendendez, Elizabeth Cross, Theodore Cross, Vincent Knobel, Bruno Gagnon, Cameron Turtle, Alan Cohen, Edward Kalmykov and Jonathan Fox

    Citation: Orphanet Journal of Rare Diseases 2021 16:70

    Content type: Research

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  3. Rare diseases are life-threatening, serious, and chronic conditions that require complex care and have a low prevalence. An estimated one in 15 people worldwide are affected by rare diseases. This study aims t...

    Authors: Güvenç Koçkaya, Sibel Atalay, Gülpembe Oğuzhan, Mustafa Kurnaz, Selin Ökçün, Çiğdem Sar Gedik, Mete Şaylan and Nazlı Şencan

    Citation: Orphanet Journal of Rare Diseases 2021 16:68

    Content type: Research

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  4. To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in S...

    Authors: Mercedes Guilabert, Alba Martínez-García, Marina Sala-González, Olga Solas and José Joaquín Mira

    Citation: Orphanet Journal of Rare Diseases 2021 16:67

    Content type: Research

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  5. Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used...

    Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia

    Citation: Orphanet Journal of Rare Diseases 2021 16:66

    Content type: Research

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  6. Whilst diagnostic pathways for children with rare conditions have shown marked improvement, concerns remain about the care children with rare conditions receive at the level of the health care provider. There ...

    Authors: Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie and S. Faisal Ahmed

    Citation: Orphanet Journal of Rare Diseases 2021 16:65

    Content type: Research

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  7. Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mut...

    Authors: Marie-Christine Reinert, David Pacheu-Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling and Knut Brockmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:64

    Content type: Research

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  8. Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from s...

    Authors: M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels and V. Laugel

    Citation: Orphanet Journal of Rare Diseases 2021 16:63

    Content type: Research

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  9. The aim of this letter to the editor is to provide a comprehensive summary of uncertainty assessment in Health Technology Assessment, with a focus on transferability to the setting of rare diseases. The author...

    Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore

    Citation: Orphanet Journal of Rare Diseases 2021 16:62

    Content type: Letter to the Editor

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  10. The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neur...

    Authors: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf and Scott R. Plotkin

    Citation: Orphanet Journal of Rare Diseases 2021 16:61

    Content type: Letter to the Editor

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  11. Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    Authors: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart and A. Fouilhoux

    Citation: Orphanet Journal of Rare Diseases 2021 16:60

    Content type: Research

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  12. Mandibular condylar osteochondroma (OC) could lead to facial morphologic and functional disturbances, such as facial asymmetry, malocclusion, and temporomandibular joint dysfunction. However, after condylar OC...

    Authors: Lei Qi, Ningning Cao, Weiwen Ge, Tengfei Jiang, Linfeng Fan and Lei Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:59

    Content type: Research

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  13. Anti-melanoma differentiation-associated protein-5 (anti-MDA5) positive patients are characterized by the high mortality rate caused by interstitial lung disease (ILD). We conducted a retrospective study to su...

    Authors: Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu and Zujiang Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:58

    Content type: Research

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  14. Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is o...

    Authors: Roman Panovský, Martin Pešl, Jan Máchal, Tomáš Holeček, Věra Feitová, Lenka Juříková, Lucia Masárová, Eva Pešlová, Lukáš Opatřil, Mary Luz Mojica-Pisciotti and Vladimír Kincl

    Citation: Orphanet Journal of Rare Diseases 2021 16:57

    Content type: Research

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  15. Being a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gen...

    Authors: Nina Xie, Qiying Sun, Jinxia Yang, Yangjie Zhou, Hongwei Xu, Lin Zhou and Yafang Zhou

    Citation: Orphanet Journal of Rare Diseases 2021 16:56

    Content type: Research

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  16. Thygeson’s superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as...

    Authors: Rana Saad, Sami Saad, Oscar Haigh, Domitille Molinari, Marc Labetoulle and Antoine Rousseau

    Citation: Orphanet Journal of Rare Diseases 2021 16:55

    Content type: Research

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  17. Pain is a highly prevalent symptom experienced by patients across numerous rare musculoskeletal conditions. Much remains unknown regarding the central, neurobiological processes associated with clinical pain i...

    Authors: Ke Peng, Keerthana Deepti Karunakaran, Robert Labadie, Miranda Veliu, Chandler Cheung, Arielle Lee, Paul B. Yu and Jaymin Upadhyay

    Citation: Orphanet Journal of Rare Diseases 2021 16:54

    Content type: Research

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  18. Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with ...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn

    Citation: Orphanet Journal of Rare Diseases 2021 16:53

    Content type: Research

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  19. Epidermolysis bullosa (EB) comprises a heterogeneous group of rare genetic diseases associated with skin blistering caused by minimal trauma. A major and common EB subtype, recessive dystrophic EB (RDEB), is c...

    Authors: Fedele Lembo, Domenico Parisi, Liberato Roberto Cecchino, Francesco Ciancio, Alessandro Innocenti and Aurelio Portincasa

    Citation: Orphanet Journal of Rare Diseases 2021 16:52

    Content type: Research

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  20. FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, ...

    Authors: Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri and Maryam Rezazadeh

    Citation: Orphanet Journal of Rare Diseases 2021 16:51

    Content type: Research

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  21. To investigate the clinical characteristics, treatment, prognosis and risk factors for chronic active Epstein–Barr Virus infection (CAEBV) associated with coronary artery dilatation (CAD) in children.

    Authors: Ang Wei, Honghao Ma, Liping Zhang, Zhigang Li, Yitong Guan, Qing Zhang, Dong Wang, Hongyun Lian, Rui Zhang and Tianyou Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:50

    Content type: Research

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  22. Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwanno...

    Authors: I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot and P. Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2021 16:49

    Content type: Letter to the Editor

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  23. Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compare...

    Authors: Yanan Li, Jiaqi Liang, Xuewen Xu, Xian Jiang, Chuan Wang, Siyuan Chen, Bo Xiang and Yi Ji

    Citation: Orphanet Journal of Rare Diseases 2021 16:48

    Content type: Research

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  24. Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcar...

    Authors: Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais and Mickaël Hiligsmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:47

    Content type: Review

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  25. Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the ...

    Authors: Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó and Zoltán Sohajda

    Citation: Orphanet Journal of Rare Diseases 2021 16:45

    Content type: Research

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  26. In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to assess supportive care needs in patients with chronic r...

    Authors: Miram K. Depping, Natalie Uhlenbusch, Yskert von Kodolitsch, Hans F. E. Klose, Victor-Felix Mautner and Bernd Löwe

    Citation: Orphanet Journal of Rare Diseases 2021 16:44

    Content type: Research

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  27. Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the m...

    Authors: Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina and Giuseppe Zampino

    Citation: Orphanet Journal of Rare Diseases 2021 16:43

    Content type: Research

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  28. Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is ...

    Authors: Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht…

    Citation: Orphanet Journal of Rare Diseases 2021 16:42

    Content type: Research

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  29. Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance...

    Authors: Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens, Louise Tofts, Craig Munns and Verity Pacey

    Citation: Orphanet Journal of Rare Diseases 2021 16:40

    Content type: Research

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  30. Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential ch...

    Authors: Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk and Anthony H. Futerman

    Citation: Orphanet Journal of Rare Diseases 2021 16:39

    Content type: Research

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  31. We present baseline characteristics and follow-up data of a Managed Access Agreement (MAA), including patients with mucopolysaccharidosis IVA (MPS IVA) receiving elosulfase alfa enzyme replacement therapy (ERT...

    Authors: Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee and Karolina M. Stepien

    Citation: Orphanet Journal of Rare Diseases 2021 16:38

    Content type: Research

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  32. Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders i...

    Authors: Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy and Sook-Za Kim

    Citation: Orphanet Journal of Rare Diseases 2021 16:37

    Content type: Review

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  33. Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and psychiatric sequel...

    Authors: Nicholas M. Burgess, Wendy Kelso, Charles B. Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis and Mark Walterfang

    Citation: Orphanet Journal of Rare Diseases 2021 16:35

    Content type: Research

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  34. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

    Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2021 16:34

    Content type: Review

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  35. Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recom...

    Authors: Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez and Tom Burke

    Citation: Orphanet Journal of Rare Diseases 2021 16:33

    Content type: Letter to the Editor

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  36. Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The ob...

    Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…

    Citation: Orphanet Journal of Rare Diseases 2021 16:32

    Content type: Research

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  37. Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidenc...

    Authors: Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Klane K. White

    Citation: Orphanet Journal of Rare Diseases 2021 16:31

    Content type: Research

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  38. Neuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver...

    Authors: Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba and Bruno Niederle

    Citation: Orphanet Journal of Rare Diseases 2021 16:30

    Content type: Research

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  39. Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics ...

    Authors: Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner and Johannes Salamon

    Citation: Orphanet Journal of Rare Diseases 2021 16:29

    Content type: Research

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  40. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a s...

    Authors: Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi and Daniela Karall

    Citation: Orphanet Journal of Rare Diseases 2021 16:28

    Content type: Research

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  41. For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatment...

    Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson and Beth K. Potter

    Citation: Orphanet Journal of Rare Diseases 2021 16:26

    Content type: Research

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  42. Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

    Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock

    Citation: Orphanet Journal of Rare Diseases 2021 16:25

    Content type: Research

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  43. Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS...

    Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2021 16:24

    Content type: Research

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  44. Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

    Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda

    Citation: Orphanet Journal of Rare Diseases 2021 16:23

    Content type: Research

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  45. In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreve...

    Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens and Pieter A. van Doorn

    Citation: Orphanet Journal of Rare Diseases 2021 16:21

    Content type: Research

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  46. The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder...

    Authors: Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz and Eva Morava

    Citation: Orphanet Journal of Rare Diseases 2021 16:20

    Content type: Research

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