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Menorrhagia, dysmenorrhea, and dyspareunia are common symptoms associated with Ehlers–Danlos syndrome [75] and are often mistaken for endometriosis. [75] Excessive menstrual bleeding can sometimes be attributed to inappropriate platelet aggregation, but faulty collagen leads to weakened capillary walls which increase the likelihood of ...
Examples are the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with deficiencies in O-mannosylation of proteins; O-xylosylglycan synthesis defects (EXT1/EXT2-CDG (hereditary multiple exostoses) and B4GALT7-CDG (Ehlers-Danlos syndrome, progeroid variant)); O-fucosylglycan synthesis ...
Hypermobility spectrum disorder does not include people with asymptomatic hypermobility or people with double-jointedness but no other symptoms. Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [6] HSD is further classified into different subtypes, which include: [6]
What are the symptoms of Ehlers-Danlos syndrome? They depend on the type of EDS and can range from loose joints to life-threatening complications, such as bleeding and the possibility of organ and ...
Most patients on naltrexone experience few or no symptoms after the first 1 to 2 weeks of treatment; for a substantial minority (20 to 30 percent) protracted discomfort is experienced. Persisting affective distress related to naltrexone may account for individuals taking the drug who drop out of treatment. [59] [48] [58]
Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. [citation needed]
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper , associated with mutations in the ATP7A gene.
The constellation of symptoms caused by craniocervical instability is known as "cervico-medullary syndrome" [4] and includes: [5] [6] [7] Anxiety disorder; Bobble-head doll syndrome, a sensation that the skull may fall off the cervical spine; Clumsiness and motor delay; Cognitive and memory decline; Double or blurred vision; Dysphagia, or the ...
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