European lipodystrophy registry: background and structure.

abstract：BACKGROUND: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 often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron...

journal_title：Orphanet journal of rare diseases

authors： Montaudié H,Chiaverini C,Sbidian E,Charlesworth A,Lacour JP

更新日期：2016-08-20 00:00:00

abstract：BACKGROUND:Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, den...

journal_title：Orphanet journal of rare diseases

authors： Satoh J,Motohashi N,Kino Y,Ishida T,Yagishita S,Jinnai K,Arai N,Nakamagoe K,Tamaoka A,Saito Y,Arima K

更新日期：2014-05-01 00:00:00

abstract：:Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical...

journal_title：Orphanet journal of rare diseases

authors： Natale V,Raquer H

更新日期：2017-04-04 00:00:00

abstract：BACKGROUND:Friedreich's Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information in the literature, cross-sectional observational studies were conducted in the UK and Germany to co...

journal_title：Orphanet journal of rare diseases

authors： Giunti P,Greenfield J,Stevenson AJ,Parkinson MH,Hartmann JL,Sandtmann R,Piercy J,O'Hara J,Casas LR,Smith FM

更新日期：2013-02-28 00:00:00

abstract：:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microceph...

journal_title：Orphanet journal of rare diseases

authors： Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

更新日期：2016-02-29 00:00:00

abstract：BACKGROUND:Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. PATIENTS AND METHODS:We report four cases with transient hydrops fetalis resulting from LS...

journal_title：Orphanet journal of rare diseases

authors： Whybra C,Mengel E,Russo A,Bahlmann F,Kampmann C,Beck M,Eich E,Mildenberger E

更新日期：2012-11-08 00:00:00

abstract：BACKGROUND:Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculo...

journal_title：Orphanet journal of rare diseases

authors： Kromann AB,Ousager LB,Ali IKM,Aydemir N,Bygum A

更新日期：2018-03-05 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：:Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 ...

journal_title：Orphanet journal of rare diseases

authors： Grønskov K,Ek J,Brondum-Nielsen K

更新日期：2007-11-02 00:00:00

abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...

journal_title：Orphanet journal of rare diseases

authors： Soutou B,Senet P,Lionnet F,Habibi A,Aractingi S

更新日期：2020-03-06 00:00:00

abstract：:In 1581 Rembert Dodoens wrote "Medicinalium observationum exempla rara, recognita et aucta" a Latin book about the diagnosis and treatment of disorders with a low prevalence. ...

journal_title：Orphanet journal of rare diseases

authors： Dooms MM

更新日期：2015-12-21 00:00:00

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In a...

journal_title：Orphanet journal of rare diseases

authors： Harafuji N,Schneiderat P,Walter MC,Chen YW

更新日期：2013-04-05 00:00:00

abstract：BACKGROUND:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...

journal_title：Orphanet journal of rare diseases

authors： Peter F,Rost S,Rolfs A,Frech MJ

更新日期：2017-08-25 00:00:00

abstract：:Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritanc...

journal_title：Orphanet journal of rare diseases

authors： Palau F,Espinós C

更新日期：2006-11-17 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude s...

journal_title：Orphanet journal of rare diseases

authors： Tauber M,Mantoulan C,Copet P,Jauregui J,Demeer G,Diene G,Rogé B,Laurier V,Ehlinger V,Arnaud C,Molinas C,Thuilleaux D

更新日期：2011-06-24 00:00:00

abstract：BACKGROUND:Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pick type B). We conduc...

journal_title：Orphanet journal of rare diseases

authors： Lipiński P,Kuchar L,Zakharova EY,Baydakova GV,Ługowska A,Tylki-Szymańska A

更新日期：2019-02-22 00:00:00

abstract：BACKGROUND:Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of...

journal_title：Orphanet journal of rare diseases

authors： Magill L,Laemmer C,Woelfle J,Fimmers R,Gohlke B

更新日期：2020-10-12 00:00:00

abstract：BACKGROUND:The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. RESULTS:In three individuals with developmental delay w...

journal_title：Orphanet journal of rare diseases

authors： Hebebrand M,Hüffmeier U,Trollmann R,Hehr U,Uebe S,Ekici AB,Kraus C,Krumbiegel M,Reis A,Thiel CT,Popp B

更新日期：2019-02-11 00:00:00

abstract：BACKGROUND:Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric co...

journal_title：Orphanet journal of rare diseases

authors： Taytard J,Nathan N,de Blic J,Fayon M,Epaud R,Deschildre A,Troussier F,Lubrano M,Chiron R,Reix P,Cros P,Mahloul M,Michon D,Clement A,Corvol H,French RespiRare® group.

更新日期：2013-10-14 00:00:00

abstract：:Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or ...

journal_title：Orphanet journal of rare diseases

authors： Ruemmele FM,Schmitz J,Goulet O

更新日期：2006-06-26 00:00:00

abstract：PURPOSE:Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in...

journal_title：Orphanet journal of rare diseases

authors： Paquin RS,Fischer R,Mansfield C,Mange B,Beaverson K,Ganot A,Martin AS,Morris C,Rensch C,Ricotti V,Russo LJ,Sadosky A,Smith EC,Peay HL

更新日期：2019-05-09 00:00:00

abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...

journal_title：Orphanet journal of rare diseases

authors： Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:Huntington's disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longitudinal studies. However, peripheral pathology in HD suggests that it is possible to study the disea...

journal_title：Orphanet journal of rare diseases

authors： Mina E,van Roon-Mom W,Hettne K,van Zwet E,Goeman J,Neri C,A C 't Hoen P,Mons B,Roos M

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical gal...

journal_title：Orphanet journal of rare diseases

authors： Hermans ME,Welsink-Karssies MM,Bosch AM,Oostrom KJ,Geurtsen GJ

更新日期：2019-10-18 00:00:00

abstract：BACKGROUND:LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LCHADD patients. STUDY DESIGN:Clinical and outcome data including history, diagnosis, short- and long...

journal_title：Orphanet journal of rare diseases

authors： Karall D,Brunner-Krainz M,Kogelnig K,Konstantopoulou V,Maier EM,Möslinger D,Plecko B,Sperl W,Volkmar B,Scholl-Bürgi S

更新日期：2015-02-22 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a ...

journal_title：Orphanet journal of rare diseases

authors： Yao M,Ma Y,Qian R,Xia Y,Yuan C,Bai G,Mao S

更新日期：2021-01-06 00:00:00

abstract：BACKGROUND:Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, ...

journal_title：Orphanet journal of rare diseases

authors： Jones SA,Rojas-Caro S,Quinn AG,Friedman M,Marulkar S,Ezgu F,Zaki O,Gargus JJ,Hughes J,Plantaz D,Vara R,Eckert S,Arnoux JB,Brassier A,Le Quan Sang KH,Valayannopoulos V

更新日期：2017-02-08 00:00:00

abstract：BACKGROUND:Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified ge...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Al-Jasmi F,Al-Shamsi AM,Ali BR,Al-Gazali L

更新日期：2013-06-17 00:00:00