HIPERLAXITUD ARTICULAR PDFHIPERLAXITUD ARTICULAR PDF

Se seleccionaron pacientes con diagnóstico de hiperelasticidad cutánea o hiperlaxitud articular; se realizó la historia clínica y exploración. Request PDF on ResearchGate | On Jan 1, , Carolina Baeza-Velasco and others published Sintomatología ansiosa y síndrome de hiperlaxitud articular en . El Síndrome de Ehlers-Danlos tipo III (SED-III), tam- bién llamado Síndrome de Hiperlaxitud Articular (SHA), es una enfermedad de los tejidos conectivos, muy.

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Ehlers-Danlos syndrome, hypermobility type HT-EDS is the most frequent form of EDS see this terma group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. These figures may however be underestimated due to clinical variability. Most affected patients are female. Onset can be at any age but it is difficult to assess in young children due hipeelaxitud higher joint laxity at this age.

Wide clinical variability is found.

The primary manifestation is hyperlaxity involving any joints: Hyperlaxity is more pronounced in younger patients and in females. Patients may also have soft or mildly hyperextensible skin, easy bruising and bleeding disorders.

Gastrointestinal involvement with functional bowel disorders is common, while esophageal hypomobility, gastroesophageal reflux and gastritis are sometimes found. Complications often include chronic pain affecting physical activity, fatigue, sleep disorders, early osteoarthritis and osteoporosis, and cardiovascular symptoms chest pain, palpitations, postural instability.

In most cases, one or both arhicular of an affected individual have some degree of joint laxity, easy bruising, or soft skin, and some of these symptoms occasionally seem to segregate within the patient’s family. The underlying pathogenic mechanism is unknown.

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A small number of patients have been found to have haploinsufficiency of tenascin X, a glycoprotein expressed in connective tissues and encoded by the TNXB gene 6p Diagnosis is currently based on major and minor diagnostic criteria including clinical signs and family history as defined in the Villefranche classification. Major diagnostic criteria include joint hyperlaxity, soft skin or skin hyperextensibility, and an articulag of other significant skin or soft tissue fragility.

Supportive diagnostic criteria include a positive family history, recurrent joint instability, and easy hipeglaxitud. However, the Villefranche classification does not take into account the extra-musculoskeletal manifestations.

The currently available scoring criteria Beighton score have been demonstrated to be highly variable among investigators. The main differential diagnosis is other types of EDS, particularly those characterized by significant connective tissue abnormalities.

There is still debate as to whether benign joint hypermobility syndrome BJHS is a distinct disorder or part of a clinical xrticular. Other diseases that also involve joint laxity are generally easy to distinguished from EDS by their characteristic features. Transmission is autosomal dominant. De novo events should be suspected if the parents of an affected patient have no signs of EDS.

It is not known whether penetrance is complete but there is highly variable expressivity. Some cases may be autosomal recessive. There is no specific treatment. Supportive and symptomatic individualized treatments include physical therapy, rehabilitation, assistive devices, pain medications, and suitable therapy for extra-articular manifestations. Surgical procedures should be considered with caution.

Síndrome de hiperlaxitud articular. A propósito de un caso | Rehabilitación

There is no increased risk of early mortality but high morbidity due to joint hyperlaxity, chronic and acute pain as well as extra-musculoskeletal manifestations which all greatly diminish quality of life. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Ehlers-Danlos syndrome, hypermobility type HT-EDS is the most frequent form of EDS see this terma group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

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Clinical description Onset can be at any age but it is difficult to assess in young children hiperlasitud to higher joint laxity at this age. Etiology The underlying pathogenic mechanism is unknown. Diagnostic methods Diagnosis is currently based on major and minor diagnostic criteria including clinical signs and family history as defined in the Villefranche classification.

Differential diagnosis The main differential diagnosis is other types of EDS, particularly those characterized by significant connective tissue abnormalities.

Antenatal diagnosis Prenatal testing is not available in the absence of an identified causal gene mutation. Genetic counseling Transmission is autosomal dominant.

Hiperlaxitud Articular

Management and treatment There is no specific treatment. Prognosis There is no increased risk of early mortality but high morbidity due to joint hyperlaxity, chronic and acute pain as well as extra-musculoskeletal manifestations which all greatly diminish quality of life. Detailed information Article for general public Svenska Suomipdf. Professionals Summary information Greekpdf Suomipdf Russianpdf Anesthesia guidelines Englishpdf Deutschpdf Guidance for genetic testing Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 8.

Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 42 Orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.