Ehlers–Danlos syndromes

Ehlers–Danlos syndromes (EDS) be a group of 13 genetic connective tissue disorders. Symptoms often dey include loose joints, joint pain, stretchy, velvety skin, den abnormal scar formation. Dese fi be noticed at birth anaa insyd early childhood. Complications fi include aortic dissection, joint dislocations, scoliosis, chronic pain, anaa early osteoarthritis. Na dem last update existing classification insyd 2017, wen na dem add a number of rarer forms of EDS.

EDS dey occur secof mutations insyd one anaa more particular genes—der be 19 genes wey fi contribute to de condition. De specific gene affected dey determine de type of EDS, though de genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) be still unknown. Some cases dey result from a new variation wey dey occur during early development. In contrast, dem dey inherit odas insyd an autosomal dominant anaa recessive manner. Typically, dese variations dey result insyd defects insyd de structure anaa processing of de protein collagen anaa tenascin. 

Diagnosis often dey base on symptoms, particularly hEDS, buh people initially fi be misdiagnosed plus somatic symptom disorder, depression, anaa myalgic encephalomyelitis/chronic fatigue syndrome. Dem fi use genetic testing to confirm all types of EDS except , for wich a genetic marker yet to be discovered.

A cure no yet be known, wey treatment be supportive in nature. Physical therapy den bracing fi help strengthen muscles den support joints. Chaw medications fi help alleviate symptoms of EDS, such as pain den blood pressure drugs, wich dey reduce joint pain den complications wey be caused by blood vessel weakness. Sam forms of EDS result insyd a normal life expectancy, buh those wey dey affect blood vessels generally decrease am. All forms of EDS fi result insyd fatal outcomes give sam patients.

While  dey affect at least one insyd 5,000 people globally, oda types fi occur at lower frequencies. De prognosis dey depend on de specific disorder. Na dem first describe excess mobility by Hippocrates insyd 400 BC. Na dem name de syndromes after two physicians, Edvard Ehlers den Henri-Alexandre Danlos, wey describe dem at de turn of de 20th century.  

 References 

 External links 



 The Ehlers-Danlos Society


Category:Abnormalities of dermal fibrous den elastic tissue
Category:Collagen disease
Category:Congenital disorders
Category:Connective tissue diseases
Category:Contortion
Category:Disorders of fascia
Category:Syndromes insyd mammals
Category:Syndromes plus ADHD
Category:Diseases dem name after discoverers
Category:Translated from MDWiki