what tests can be done to determine charcot marie tooth disease
Charcot-Marie-Molar Disease Diagnosis
Charcot-Marie-Tooth (CMT) affliction is an inherited neurological status that involves muscle weakness and numbness. Symptoms usually present between the ages of 5 and xv, which is when the condition is typically diagnosed.
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Symptoms
Initial symptoms that may exist indicative of CMT disease include abnormal clumsiness, difficulty walking due to "foot drop," difficulty lifting the feet from the ground. Characteristic signs and symptoms for diagnosis include:
- Muscle weakness in the feet, ankles, and legs
- Pes deformity (high arches, flat feet hammertoes)
- Numbness in the limbs
- Poor circulation to easily and feet
- Sensory loss in extremities
Diagnosis
As CMT is an inherited disease, the family unit history of the patient with suggestive symptoms should be discussed.
The physical test to diagnose CMT involves several simple tests that help to recognize common signs of the affliction. This includes tests for muscle strength, reflex response, and physical deformation of the feet, such as high arches or flat feet.
To confirm the diagnosis of CMT, further neurological testing methods are required to determine the root cause of the symptoms and make the right diagnosis.
Nerve conduction test
A nerve conduction test involves the placement of electrodes on the skin of the patient, which stimulates the peripheral nerves with an electrical pulse. This can be used to measure the strength and speed of the letters in the peripheral nervous system (PNS), equally reduced activeness can exist indicative of CMT.
EMG
Electromyography (EMG) is a diagnostic test that involves the placement of an electrode on the skin of the patient to measure the electrical activity of the muscles. This is useful for the diagnosis of CMT considering there are significant changes in the muscular action in affected individuals.
Charcot Marie Tooth (CMT) Information and Handling
Blood tests
Claret tests may too exist taken to cheque for the presence of cistron mutations that are known to cause CMT. This is useful to find the disease in most individuals who have known mutations, simply at that place are also several unidentified causative genes. Therefore, an individual may be diagnosed with the condition without positive genetic testing results.
Nerve biopsy
Rarely, a nerve biopsy may be required in the diagnostic process, peculiarly when other testing methods have proven to be inconclusive. This involves obtaining a sample from a peripheral nervus in the leg, which is examined for physical changes under a microscope.
Coping with diagnosis
It is common for patients who are diagnosed with CMT to experience intense emotions such as daze, deprival, confusion, fearfulness, or relief, depending on the particular circumstances.
Patients should feel at ease to make decisions about their wellness and possible handling when they are set up, without feeling pressured. A strong support network and access to reputable information about the disease is also very helpful as management of the disease and related symptoms begins.
Antenatal diagnosis
As CMT can be caused by a number of known gene mutations, expectant couples with a family history of the disease may wish to observe out if their infant is likely to be afflicted. These tests are carried out during pregnancy to make up one's mind whether a infant has inherited the defective genes and their run a risk for developing CMT.
Chorionic villus sampling (CVS) is a test that involves taking a sample of the placenta from the womb, usually between weeks 11 and 14 of the pregnancy. The sample is and so examined for the presence of gene mutations associated with CMT in a laboratory.
Another examination that tin can be used to diagnose CMT in a fetus is amniocentesis. This test involves taking a sample of the amniotic fluid, usually betwixt weeks 15 to twenty of the pregnancy. The sample is then examined for genetic mutations that are indicative of CMT.
Depending on the results of the tests, expectant parents can make the conclusion on whether they want to keep the pregnancy or non. Notwithstanding, parents should be aware that the severity of the status tin vary widely and that the genetic tests are not currently able to predict the true impact of the condition on the child's quality of life.
References
- http://world wide web.nhs.uk/Weather condition/Charcot-Marie-Molar-affliction/Pages/Diagnosis.aspx
- http://patient.info/doctor/charcot-marie-tooth-disease
- http://emedicine.medscape.com/article/1232386-differential
- http://world wide web.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
- https://world wide web.mda.org/disease/charcot-marie-molar/diagnosis
Further Reading
- All Charcot-Marie-Tooth Disease Content
- Charcot-Marie-Tooth Disease Handling
- Charcot-Marie-Tooth Disease Types
- What is Charcot-Marie-Tooth Disease (CMT)?
Last Updated: May 22, 2021
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