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In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [4] [1] HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22.
Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy. Patients can also have high arched feet, hammer toes, foot drop, foot deformities, and scoliosis. These symptoms are a result of severe muscular weakness and atrophy.
HNPP: hereditary neuropathy with liability to pressure palsy: H/O: history of ... HOB: head of bed (usually followed by number of degrees of elevation, e.g., HOB 10°) HOCM: hypertrophic obstructive cardiomyopathy: HONK: hyperosmolar nonketotic state HOPI: History of present illness: H&P: history and physical examination (which very often are ...
Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. [1] Those affected are unable to feel pain and temperature. [2] [3] 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 ...
A medical triad is a group of three signs or symptoms, the result of injury to three organs, which characterise a specific medical condition. The appearance of all three signs conjoined together in another patient, points to that the patient has the same medical condition, or diagnosis.
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
Because of the little awareness on AMPS, the condition is frequently not diagnosed when symptoms first present, often with multiple diagnoses of physical conditions before the diagnosis of AMPS. [3] [12] The condition is diagnosed through observation of various patient traits. A full overview of the patients medical history, as well as out rule ...
In children, a ferritin above 10000 μg/L is very sensitive and specific for the diagnosis of HLH, [17] however, the diagnostic utility for ferritin is less for adult HLH patients. [18] The serum fibrinogen level is usually low and the D-dimer level is elevated. [citation needed] The sphingomyelinase is elevated. [19] Bone marrow biopsy shows ...