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Menorrhagia, dysmenorrhea, and dyspareunia are common symptoms associated with Ehlers–Danlos syndrome [76] and are often mistaken for endometriosis. [76] Excessive menstrual bleeding can sometimes be attributed to inappropriate platelet aggregation, but faulty collagen leads to weakened capillary walls which increase the likelihood of ...
Patients who have a diagnosis of EDS-HT or JHS will fall into one of these two new categories. [7] 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]
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 ...
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 ...
Joint hypermobility is often correlated with hypermobile Ehlers–Danlos syndrome (hEDS, known also by EDS type III or Ehlers–Danlos syndrome hypermobility type (EDS-HT)). Ehlers–Danlos syndrome is a genetic disorder caused by mutations or hereditary genes, but the genetic defect that produced hEDS is largely unknown. In conjunction with ...
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
[6] [7] [8] A spontaneous spinal cerebrospinal fluid leak may occur sometimes in those with predisposing heritable connective tissue disorders including Marfan syndrome and Ehlers–Danlos syndromes. [5] [9] A loss of CSF greater than its rate of production leads to a decreased volume inside the skull known as intracranial hypotension.
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 ...