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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.
The symptoms affect just one particular part of the body, depending on which nerve is affected. The diagnosis is largely clinical and can be confirmed with diagnostic nerve blocks. Occasionally imaging and electrophysiology studies aid in the diagnosis. Timely diagnosis is important as untreated chronic nerve compression may cause permanent damage.
Too much PMP22 (e.g. caused by gene duplication) results in CMT1A, and too little PMP22 (e.g. caused by gene deletion) results in HNPP. [10] Point mutations in PMP22 can result in CMT1E. [ 6 ] Gene duplication of PMP22 is the most common genetic cause of CMT; [ 11 ] [ 12 ] up to half of all cases confirmed by a genetic diagnosis are caused by a ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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 ...
HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. [2]
DAMP is diagnosed on the basis of concomitant attention deficit/hyperactivity disorder and developmental coordination disorder in children who do not have a severe learning disability or cerebral palsy. In clinically severe form, it affects about 1.5% of the general population of 7-year-old-children; 3-6% are affected by more moderate variants.
As the children grew older, the brain tissue thickened and their ADHD symptoms improved. Environmental factors, such as the mother smoking or drinking during pregnancy is connected to children with ADHD. Children exposed to lead at a young age will also have an increased chance of developing ADHD.