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prévalence
Commentaire :
Nombre total de cas d'une maladie dans une population donnée pendant un temps déterminé, sans distinction entre cas anciens et nouveaux. (d'après le MeSH ; 10/08/2005)
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Documents disponibles dans cette catégorie (663)
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Bird TD | 21/03/2024Initial Posting: September 17, 1999; Last Revision: March 21, 2024. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, an[...]Article
Sechi E ; Deiana GA ; Puci M ; Zara P ; Ortu E ; Porcu C ; Carboni N ; Chessa P ; Ruiu E ; Nieddu A ; Tacconi P ; Russo A ; Manca D ; Sechi MM ; Guida M ; Ricciardi R ; Ercoli T ; Mascia MM ; Muroni A ; Profice P ; Saddi V ; Melis M ; Cocco E ; Spagni G ; Iorio R ; Damato V ; Maestri M ; Sotgiu S ; Sotgiu G ; Solla P | 08/03/2024Article
Initial Posting: August 31, 2007; Last Revision: November 2, 2023. Clinical characteristics. Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; indiv[...]Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Yamazaki M, Auteur | Orphanet | Série Maladies Rares | 11/2023Méthodologie Orphanet réalise une étude systématique de la littérature afin d’estimer la prévalence et l’incidence des maladies rares. Elle vise à collecter les nouvelles données de prévalence, prévalence à la naissance et d’incidence, et à met[...]Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Yamazaki M, Auteur | Orphanet | Série Maladies Rares | 11/2023Méthodologie Orphanet réalise une étude systématique de la littérature afin d’estimer la prévalence et l’incidence des maladies rares. Elle vise à collecter les nouvelles données de prévalence, prévalence à la naissance et d’incidence, et à met[...]Article
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Leslie ND ; Saenz-Ayala S | 13/07/2023In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 Initial Posting: May 28, 2009; Last Revision: July 13, 2023 (Previous Update: June 16, 2022) CLINICAL CHARACT[...]Article
Pichon T ; Messiaen C ; Soussand L ; Angin C ; Sandrin A ; Elarouci N ; Jannot AS | 03/07/2023Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Geille A, Validateur ; Loux N, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La dystrophie myotonique de type 2 ou PROMM (pour proximal myotonic myopathy) est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie), mais pe[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Gourdon G, Validateur ; Loux N, Validateur ; Sayah S, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La maladie de Steinert ou dystrophie myotonique de type 1 est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie). Elle touche aussi d'autres [...]Publication AFM
Myoinfo, Auteur ; Dumonceaux J, Validateur ; Genet S, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La myopathie facio-scapulo-humérale (FSHD) est une maladie rare, d’origine génétique. Les premiers symptômes (diminution de volume et faiblesse des muscles du visage et des membres supérieurs) apparaissent le plus souvent à l’adolescence ou à l’[...]Article
Last Update: May 29, 2023 [Previous update: May 8, 2022]Rapport institutionnel
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Salort-Campana E ; Laforet P ; de Pouvourville G ; Crochard A ; Nevoret C ; Bouée S ; Tard C | 04/2023Introduction Les études portant sur l’épidémiologie de la myasthénie auto-immune (myasthenia gravis-MG) sont rares en France et anciennes. Objectifs Les objectifs de cette étude sont de décrire l’épidémiologie de la MG, son impact et sa prise[...]Article
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In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Initial Posting: March 30, 2023. CLINICAL CHARACTERISTICS: CHKB-related muscular dystrophy (CHKB-MD), r[...]Article
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La Spada A | 15/12/2022Initial Posting: February 26, 1999; Last Update: December 15, 2022. Clinical characteristics. Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in[...]Article
Coratti G ; Ricci M ; Capasso A ; D'Amico A ; Sansone V ; Bruno C ; Messina S ; Ricci F ; Mongini T ; Coccia M ; Siciliano G ; Pegoraro E ; Turri M ; Filosto M ; Comi G ; Masson R ; Maggi L ; Bruno I ; D'Angelo MG ; Trabacca A ; Vacchiano V ; Donati M ; Simone I ; Ruggiero L ; Varone A ; Verriello L ; Berardinelli A ; Agosto C ; Pini A ; Maioli MA ; Passamano L ; Brighina F ; Carboni N ; Garibaldi M ; Zuccarino R ; Gagliardi D ; Siliquini S ; Previtali S ; Taruscio D ; Boccia S ; Pera MC ; Pane M ; Mercuri E | United States | 02/12/2022Article
Angelini C | 01/12/2022Initial Posting: May 10, 2005; Last Update: December 1, 2022. Clinical characteristics. Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tend[...]Article
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Jensen SM ; Muller KI ; Mellgren SI ; Bindoff LA ; Rasmussen M ; Orstavik K ; Jonsrud C ; Tveten K ; Nilssen Ø ; van Ghelue M ; Arntzen KA | England | 25/11/2022Article
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Yoshikawa H ; Adachi Y ; Nakamura Y ; Kuriyama N ; Murai H ; Nomura Y ; Sakai Y ; Iwasa K ; Furukawa Y ; Kuwabara S ; Matsui M | 21/09/2022Article
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Jain A ; Al Khalili Y | 21/07/2022Last Update: July 21, 2022 (Previous versions : July 10, 2021 - December 15, 2020)Article
Pascual-Morena C ; Cavero-Redondo I ; Reina-Gutiérrez S ; Saz-Lara A ; Lopez-Gil JF ; Martinez-Vizcaino V | United States | 15/07/2022Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Geille A, Validateur ; Loux N, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022La dystrophie myotonique de type 2 ou PROMM (pour proximal myotonic myopathy) est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie), mais pe[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Geille A, Validateur ; Loux N, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022La maladie de Steinert ou dystrophie myotonique de type 1 est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie). Elle touche aussi d'autres [...]Publication AFM
Myoinfo, Auteur ; Dumonceaux J, Validateur ; Rougeau C, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022La myopathie facio-scapulo-humérale (FSH) est une maladie rare, d’origine génétique. Les premiers symptômes (diminution de volume et faiblesse des muscles du visage et des membres supérieurs) apparaissent le plus souvent à l’adolescence ou à l’â[...]Article
Last Update: July 8, 2021. (previous version July 8, 2020)Article
Last Update: May 8, 2022. (previous version July 6, 2021)Article
Last Update: May 8, 2022 (previous version May 9, 2021)Article
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Aharoni S ; Bistritzer J ; Levine H ; Sagi L ; Fattal-Valevski A ; Ginzberg M ; Noyman I ; Cohen R ; Nevo Y | England | 27/04/2022Article
Pfeffer G ; Chinnery PF | 14/04/2022Initial Posting: February 27, 2014; Last Update: April 14, 2022. Clinical characteristics. Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of l[...]Article
Hershberger RE ; Jordan E | 07/04/2022Initial Posting: July 27, 2007; Last Update: April 7, 2022. The purpose of this overview is to increase clinician awareness of the genetic basis of dilated cardiomyopathy (DCM) and the benefits of early diagnosis and management to individuals[...]Article
Hossain MM ; Wilkerson J ; McGrath JA ; Farhadi PN ; Brokamp C ; Khan MTF ; Goldberg B ; Brunner HI ; Macaluso M ; Miller FW ; Rider LG | 16/03/2022Article
Pascual-Morena C ; Martinez-Vizcaino V ; Saz-Lara A ; Lopez-Gil JF ; Fernandez-Bravo-Rodrigo J ; Cavero-Redondo I | Germany | 01/03/2022Article
Hamilton MJ ; Atalaia A ; McLean J ; Cumming SA ; Evans JJ ; Ballantyne B ; Jampana R ; Longman C ; Livingston E ; van der Plas E ; Koscik T ; Nopoulos P ; Farrugia ME ; Monckton DG | England | 14/02/2022Article
Initial Posting: September 5, 2000; Last Revision: January 20, 2022. Clinical characteristics. The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker[...]Article
Galindo Feria AS ; Horuluoglu B ; Day J ; Fernandes-Cerqueira C ; Wigren E ; Gräslund S ; Proudman S ; Lundberg IE ; Limaye V | England | 12/01/2022Article
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Last Update: January 9, 2022 (previous version August 14, 2021; August 15, 2020)Article
Schreuder AB ; Rossi A ; Grünert SC ; Derks TGJ | 06/01/2022Initial Posting: March 9, 2010; Last Update: January 6, 2022. Clinical characteristics. Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most c[...]Article
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Chen G ; Sharif B ; Gerber B ; Farris MS ; Cowling T ; Cabalteja C ; Wu JW ; Maturi B ; Klein-Panneton K ; Jean K Mah | England | 11/2021Article
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Alharbi N ; Shosha E ; Cupler E ; Al Hindi H ; Murad H ; Alhomud I ; Alshehri A ; Almohazee M ; Monies D ; Abohlega S | Italy | 08/2021Article
Tankink M ; Horlings CGC ; Voermans N ; van der Sluijs B ; Kessels RPC ; van Engelen B ; Raaphorst J | Netherlands | 28/07/2021Article
Pinal Fernandez I ; Pak K ; Gil-Vila A ; Baucells A ; Plotz B ; Casal-Dominguez M ; Derfoul A ; Angeles Martinez M ; Selva-O Callaghan A ; Sabbagh S ; Casciola-Rosen L ; Albayda J ; Paik J ; Tiniakou E ; Danoff SK ; Lloyd TE ; Miller FW ; Rider LG ; Christopher Stine L ; Mammen AL | United States | 27/07/2021Article
Last Update: July 8, 2021. (previous version July 8, 2021)Article
Leckie JN ; Joel MM ; Martens K ; King A ; King M ; Korngut LW ; de Koning APJ ; Pfeffer G ; Schellenberg KL | 07/07/2021Article
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Weber F | 01/07/2021Initial Posting: July 18, 2003; Last Update: July 1, 2021. Clinical characteristics. Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes[...]Article
Aoki M ; Takahashi T | 27/05/2021Initial Posting: February 5, 2004; Last Update: May 27, 2021. Clinical characteristics. Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular [...]Article
Rodrigues Filho JC ; Neves DD ; Moreira GA ; Viana ADC Jr ; Araújo-Melo MH | Netherlands | 24/05/2021Article
Barsotti S ; Cavazzana I ; Zanframundo G ; Neri R ; Taraborelli M ; Cioffi E ; Cardelli C ; Tripoli A ; Codullo V ; Tincani A ; Cavagna L ; Franceschini F ; Mosca M | Netherlands | 05/2021Article
Initial Posting: June 11, 2015; Last Update: April 8, 2021 Clinical description. Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neu[...]Article
Foley AR ; Mohassel P ; Donkervoort S ; Bolduc V ; Bonnemann CG | 11/03/2021Initial Posting: June 25, 2004; Last Update: March 11, 2021. Clinical characteristics. Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, U[...]Article
Azzedine H ; Salih MA | 11/03/2021Initial Posting: March 31, 2008; Last Update: March 11, 2021. Clinical characteristics. SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis[...]Article
Initial Posting: August 3, 2005; Last Update: February 25, 2021. Clinical characteristics. Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, faci[...]Article
Velez-Bartolomei F ; Lee C ; Enns G | 07/01/2021Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized[...]Article
Hov B ; Andersen T ; Toussaint M ; Vollsaeter M ; Mikalsen IB ; Indrekvam S ; Hovland V | England | 03/01/2021Article
Prior TW ; Leach ME ; Finanger E | 3/12/2020Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of t[...]Article
Fernandez-Eulate G, Auteur ; Leturcq F ; Laforet P ; Richard I ; Stojkovic T | AFM-TELETHON | Les cahiers de myologie | 12/2020Les sarcoglycanopathies font partie des dystrophies musculaires des ceintures (LGMD) autosomiques récessives et représentent la troisième cause la plus fréquente d’entre elles. Elles sont consécutives à un déficit d’un des sarcoglycanes α, β, γ,[...]Article
Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler Browne G ; Evangelista T ; Lacau St Guily J ; Richard P | 22/10/2020Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and phar[...]Article
Initial Posting: April 2, 2009; Last Update: September 17, 2020. Clinical characteristics. Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bl[...]Article
Chrestian N | 27/08/2020Initial Posting: September 28, 1998; Last Update: August 27, 2020. Clinical characteristics. Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or mu[...]Article
Update : 2020 August. (Last Update: March 19, 2023)Article
Ferreira C ; Pierre G ; Thompson R ; Vernon H | 09/07/2020nitial Posting: October 9, 2014; Last Update: July 9, 2020. Clinical characteristics. Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...]Article
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Rivner MH ; Quarles BM ; Pan JX ; Yu Z ; Howard Jr JF ; Corse A ; Dimachkie MM ; Jackson C ; Vu T ; Small G ; Lisak RP ; Belsh J ; Lee I ; Nowak RJ ; Baute V ; Scelsa S ; Fernandes JA ; Simmons Z ; Swenson A ; Barohn R ; Sanka RB ; Gooch C ; Ubogu E ; Caress J ; Pasnoor M ; Xu H ; Mei L | United States | 06/2020Article
Zuchner S | 14/05/2020Initial Posting: February 18, 2005; Last Update: May 14, 2020. Clinical characteristics. MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal domi[...]Article
Mah ML ; Cripe L ; Slawinski MK ; Al Zaidy SA ; Camino E ; Lehman KJ ; Jackson JL ; Iammarino M ; Miller N ; Mendell JR ; Hor KN | Netherlands | 05/2020Article
Carrillo N ; Malicdan MC ; Huizing M | 09/04/2020Initial Posting: March 26, 2004; Last Update: April 9, 2020. Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibial[...]Article
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Vanherpe P ; Fieuws S ; D'Hondt A ; Bleyenheuft C ; Demaerel P ; De Bleecker J ; van den Bergh P ; Baets J ; Remiche G ; Verhoeven K ; Delstanche S ; Toussaint M ; Buyse B ; Van Damme P ; Depuydt CE ; Claeys KG | 04/2020Article
Schoser B | 19/03/2020Initial Posting: September 21, 2006; Last Update: March 19, 2020. Clinical characteristics. Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less[...]Article
Kooi-van Es M ; Erasmus CE ; de Swart BJM ; Voet NBM ; van der Wees PJ ; De Groot IJM ; van den Engel-Hoek L | Netherlands | 03/2020Article
Abrams CK | 20/02/2020Initial Posting: June 18, 1998; Last Update: February 20, 2020. Clinical characteristics. GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limite[...]Article
Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R | 16/01/2020Initial Posting: December 19, 2003; Last Update: January 16, 2020. Clinical characteristics. Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeleta[...]Article
Miele L ; Perna A ; Dajko M ; Zocco MA ; De Magistris A ; Nicoletti TF ; Biolato M ; Marrone G ; Liguori A ; Maccora D ; Valenza V ; Rossi S ; Riso V ; Di Natale D ; Gasbarrini A ; Grieco A ; Silvestri G | Netherlands | 09/01/2020Article
Akesson LS ; Savarirayan R | 2020Clinical characteristics. Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including [...]Article
Leurs A ; Dubucquoi S ; Machuron F ; Balden M ; Renaud F ; Rogeau S ; Lopez B ; Lambert M ; Morell-Dubois S ; Maillard H ; Behal H ; Hachulla E ; Launay D ; Sobanski V | France | 2020Article
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Labrador E ; Weinstein DA | 27/11/2019Initial Posting: April 23, 2009; Last Update: November 27, 2019. Clinical characteristics. Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzy[...]Article
Chong-Nguyen C ; Stalens C ; Goursot Y ; Bougouin W ; Stojkovic T ; Behin A ; Mochel F ; Berber N ; Eymard B ; Duboc D ; Laforet P ; Wahbi K | United States | 11/2019Article
Higgs C, Auteur ; Hilbert JE ; Wood L ; Martens WB ; Marini-Bettolo C ; Nikolenko N ; Alsaggaf R ; Lochmuller H ; Moxley RT ; Greene MH ; Wang Y ; Gadalla SM | Switzerland | 10/2019Article
Desai R, Auteur ; Abbas SA ; Fong HK ; Lodhi MU ; Doshi R ; Savani S ; Gangani K ; Sachdeva R ; Kumar G | Netherlands | 10/2019Publication AFM
Myoinfo, Auteur ; Duguet C, Validateur ; Dupitier E, Validateur ; Eymard N, Validateur ; Lagrue E, Validateur ; Reveillere C, Validateur ; Urtizberea JA | AFM-TELETHON | Savoir & Comprendre | 10/2019L’amyotrophie spinale proximale liée au gène SMN1 est une maladie rare qui se manifeste par une faiblesse musculaire d’importance variable exceptionnellement présente dès la naissance ou apparaissant par la suite, dans l’enfance, à l’adolescence[...]Article
Kimonis V | 12/09/2019Initial Posting: May 25, 2007; Last Update: September 12, 2019. Clinical characteristics. Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal [...]Article
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Runte M ; Spiesshoefer J ; Heidbreder A ; Dreher M ; Young P ; Brix T ; Boentert M | Germany | 09/2019Article
Penttila S ; Vihola A ; Palmio J ; Udd B | 22/08/2019Initial Posting: November 29, 2012; Last Update: August 22, 2019. Clinical characteristics. The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal m[...]Article
Bonne G ; Leturcq F ; Ben Yaou R | 15/08/2019Initial Posting: September 29, 2004; Last Update: August 15, 2019. Clinical characteristics. Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progr[...]Article
Magoulas PL ; El-Hattab AW | 01/08/2019Initial Posting: January 3, 2013; Last Update: August 1, 2019. Clinical characteristics. The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ag[...]Article
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Saito K | 03/07/2019Initial Posting: January 26, 2006; Last Update: July 3, 2019. Clinical characteristics. Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that[...]Article
Initial Posting: June 20, 2019. Clinical characteristics. STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected ind[...]Article
Initial Posting: August 5, 2008; Last Update: June 6, 2019. The purpose of this overview is to increase clinician awareness of the genetic basis of hypertrophic cardiomyopathy (HCM) and the benefits of early diagnosis and management to indivi[...]Article
van der Velden BG, Auteur ; Okkersen K ; Kessels RP ; Groenewoud J ; van Engelen B ; Knoop H ; Raaphorst J | 01/05/2019Article
Wieser T | 03/01/2019Initial Posting: August 27, 2004; Last Revision: January 3, 2019. Clinical characteristics. Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal n[...]Article
El-Hattab AW ; Almannai M ; Scaglia F | 29/11/2018Initial Posting: February 27, 2001; Last Update: November 29, 2018. Clinical characteristics. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast [...]Article
Brignol TN, Auteur ; Fort PE ; Ventura DF ; Tadayoni R ; Rendon A | 26/09/2018To the Editor: We read with interest the recent article by Rice and colleagues1 reporting on 596 patients with Duchenne muscular dystrophy (DMD) treated with steroid and evaluated for cataract development. The authors reported that the prevalenc[...]Article
Dowling JJ ; Lawlor MW ; Das S | 23/08/2018Initial Posting: February 25, 2002; Last Update: August 23, 2018. Clinical characteristics. X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. [...]Article
Wolfe L ; Jethva R ; Oglesbee D ; Vockley J | 09/08/2018Initial Posting: September 22, 2011; Last Update: August 9, 2018. Clinical characteristics. Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asympto[...]Article
Weber F ; Lehmann-Horn F | 26/07/2018Initial Posting: April 30, 2002; Last Update: July 26, 2018. Clinical characteristics. Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (ser[...]Article
Wang J ; El-Hattab AW | 26/07/2018Initial Posting: December 6, 2012; Last Update: July 26, 2018. Clinical characteristics. TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individua[...]Article
Comment in: Cataract development associated with long-term glucocorticoid therapy in Duchenne muscular dystrophy patients. [J AAPOS. 2018] Reply. [J AAPOS. 2018]Article
DA Dyment ; Bennett SAL ; Medin JA ; Levade T | 29/03/2018Initial Posting: March 29, 2018. Clinical characteristics. The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized b[...]Article
Neurological sciences Autism spectrum disorders are prevalent among patients with dystrophinopathies
Fujino H, Auteur ; Saito T ; Matsumura T ; Shibata S ; Iwata Y ; Fujimura H ; Imura O | 28/03/2018Article
Leborgne C, Auteur ; Latournerie V ; Boutin S ; Desgue D ; Quéré A ; Pignot E ; Collaud F ; Charles S ; Simon-Sola M ; Masat E ; Jouen F ; Boyer O ; Masurier C ; Mingozzi F ; Veron P | 16/03/2018Article
Stunnenberg BC, Auteur ; Raaphorst J ; Deenen JCW ; Links TP ; Wilde AA ; Verbove DJ ; Kamsteeg EJ ; van den Wijngaard A ; Faber CG ; van der Wilt GJ ; van Engelen BGM ; Drost G ; Ginjaar HB | 09/03/2018Article
Yeker RM, Auteur ; Pinal Fernandez I ; Kishi T ; Pak K ; Targoff IN ; Miller FW ; Rider LG ; Mammen AL | 23/01/2018Article
Comment in: Reply to: "Association of hepatitis E virus infection and myasthenia gravis: A pilot study". [J Hepatol. 2018] Comment on: Hepatitis E virus infection and acute non-traumatic neurological injury: A prospective multicentr[...]Article
Estephan EP, Auteur ; Sobreira CFDR ; Dos Santos ACJ ; Tomaselli PJ ; Marques W ; Ortega RPM ; Costa MCM ; da Silva AMS ; Mendonça RH ; Caldas VM ; Zambon AA ; Abath Neto O ; Marchiori PE ; Heise CO ; Reed UC ; Azuma Y ; Topf A ; Lochmuller H ; Zanoteli E | 2018Article
Andrenelli E, Auteur ; Galli FL ; Gesuita R ; Skrami E ; Logullo FO ; Provinciali L ; Capecci M ; Ceravolo MG ; Coccia M | 2018Article
Fayssoil A, Auteur ; Ben Yaou R ; Ogna A ; Chaffaut C ; Leturcq F ; Nardi O ; Wahbi K ; Duboc D ; Lofaso F ; Prigent H ; Clair B ; Crenn P ; Nicolas G ; Laforet P ; Behin A ; Chevret S ; Orlikowski D ; Annane D | 2018Article
van Vliet J, Auteur ; Tieleman AA ; Verrips A ; Timmerman H ; van Dongen RTM ; van Engelen BGM ; Wilder-Smith OHG | 2018Article
Jimenez-Moreno AC, Auteur ; Raaphorst J ; Babacic H ; Wood L ; van Engelen B ; Lochmuller H ; Schoser B ; Wenninger S | 27/12/2017Article
Papadopoulos C, Auteur ; Kekou K ; Xirou S ; Kitsiou-Tzeli S ; Kararizou E ; Papadimas GK | 08/12/2017Comment in: Christmas tree cataract and myotonic dystrophy type 1. [Eye (Lond). 2018]Brève
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El-Hattab AW ; Scaglia F | 18/05/2017Initial Posting: May 26, 2009; Last Revision: May 18, 2017. Clinical characteristics. SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following[...]Article
Bird TD | 30/03/2017Initial Posting: May 11, 2004; Last Update: March 30, 2017. Clinical characteristics. GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) th[...]Article
Verhaart IEC, Auteur ; Robertson A ; Wilson IJ ; Aartsma Rus A ; Cameron S ; Jones CC ; Cook SF ; Lochmuller H | 2017Article
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Zoom sur... la maladie de Steinert" est un document de synthèse publié par l'AFM-Téléthon, qui présente une information générale, scientifique, médicale, psychologique et sociale sur la maladie de Steinert (ou dystrophie myotonique de type 1) : [...]Article
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