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Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3 ] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).
As these channels are likely involved in the formation and propagation of action potentials in such neurons, it is expected that a loss of function mutation in SCN9A leads to abolished nociceptive pain propagation. [7] [8] PRDM12 gene is normally switched on during the development of pain-sensing nerve cells. People with homozygous mutations of ...
The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to lack of protective impulses. [4] Joint and bone problems are common due to repeated injuries, and wounds heal poorly. [5] Delayed developmental milestones in early years may be observed. [6]
Bertolotti's syndrome is a commonly missed cause of back pain which occurs due to lumbosacral transitional vertebrae (LSTV). It is a congenital condition but is not usually symptomatic until one's later twenties or early thirties. [1] However, there are a few cases of Bertolotti's that become symptomatic at a much earlier age.
Intractable pain, also called intractable pain syndrome (IPS), is a severe, constant, relentless, and debilitating pain that is not curable by any known means and which causes a house-bound or bed-bound state and early death if not adequately treated, usually with opioids and/or interventional procedures. It is not relieved by ordinary medical ...
Amplified musculoskeletal pain syndrome (AMPS) is an illness characterized by notable pain intensity without an identifiable physical cause. [1] [6] Characteristic symptoms include skin sensitivity to light touch, also known as allodynia. Associated symptoms may include changes associated with disuse including changes in skin texture, color ...
In telecommunications, insertion loss is the loss of signal power resulting from the insertion of a device in a transmission line or optical fiber and is usually expressed in decibels (dB). If the power transmitted to the load before insertion is P T and the power received by the load after insertion is P R , then the insertion loss in decibels ...
Paroxysmal extreme pain disorder originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing. PEPD often first manifests at the beginning of life, perhaps even in utero, with symptoms persisting throughout