Mots-clés
![]() 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)
Synonyme(s)prevalence ;phenotypic frequency fréquence phénotypique |
Documents disponibles dans cette catégorie (689)

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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[...]![]()
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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[...]![]()
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Bird TD | 29/10/2020Initial Posting: September 17, 1999; Last Revision: October 29, 2020. 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, [...]![]()
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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[...]![]()
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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[...]![]()
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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[...]![]()
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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[...]![]()
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Publication AFM
Myoinfo (AFM-Téléthon), Auteur ; Vallat JM, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2020La maladie de Charcot-Marie-Tooth (CMT) représente un groupe de maladies cliniquement et génétiquement hétérogènes, caractérisées par une atteinte des nerfs périphériques des membres supérieurs et inférieurs. Cette atteinte entraîne principalem[...]![]()
Publication AFM
Myoinfo (AFM-Téléthon), Auteur ; Urtizberea JA, Validateur ; Lorain S, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2020Les myopathies ou dystrophies musculaires des ceintures (LGMD pour Limb Girdle Muscular Dystrophy) constituent un groupe hétérogène de maladies musculaires rares d’origine génétique. Elles se manifestent par un déficit et une atrophie des muscle[...]![]()
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Züchner 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[...]![]()
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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[...]![]()
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Pfeffer G ; Chinnery PF | 19/03/2020Initial Posting: February 27, 2014; Last Update: March 19, 2020. 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[...]![]()
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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[...]![]()
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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[...]![]()
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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[...]![]()
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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 [...]