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Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. [7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1 ] These may be noticed at birth or in early childhood. [ 3 ]
Ehlers–Danlos hypermobility type can have severe musculoskeletal effects, including: Jaw laxity that may make an individual's jaw open and close like a hinge, as well as open further than the average. Neck pain that can lead to chronic headaches and is usually associated with a crackling or grinding sensation .
The Ehlers-Danlos Society listed these possible warning signs: loose, overly flexible or unstable joints. joint pain. soft, stretchy, fragile skin that tears or bruises easily. slow and poor wound ...
Symptoms can include the inability to walk properly or for long distances, and pain in affected areas. Some people with HSD have hypersensitive nerves and a weaker immune system. It can also cause severe fatigue and some cases cause depressive episodes. It is somewhat similar to other genetic connective tissue disorders such as Ehlers–Danlos ...
Piezogenic papules on the heel of an individual with Ehlers–Danlos syndrome. Specialty: Dermatology: Symptoms: Multiple yellowish to skin-coloured small or large bumps, mostly painless; typically on heels and wrist [2] [3] Causes: Pressure [2] Risk factors: Obesity, flat feet, athletes, figure skaters, long-distance runners [3] Diagnostic ...
A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, [6] Ehlers–Danlos syndromes, [7] autoimmune autonomic ganglionopathy and autonomic neuropathy, [8] HIV/AIDS, [9] mitochondrial cytopathy, [10] pure autonomic failure, autism, and postural orthostatic tachycardia ...
Moderate-to-severe cases can cause radicular pain in the legs caused by nerve root compression. [5] The symptoms are usually exacerbated by upright posture and often, but not always, relieved by lying down. Postural headaches can be related to spontaneous spinal cerebrospinal fluid leaks. [6] However, in many patients, dural ectasia is ...