Hereditary and idiopathic neuropathies

Genetic Testing for Hereditary Peripheral Neuropathies: New Genetic Cause for Charcot-Marie-Tooth

Genetic testing can help doctors identify the causes of hereditary and idiopathic neuropathies.  Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.  Several methods can be used for genetic testing:

  • Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
  • Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder
  • Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Charcot-Marie-Tooth disease (CMT) is a broad term used to describe a group of inherited neurological disorders characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. Genetic testing can confirm the diagnosis of CMT and simplify the process by avoiding uncomfortable and invasive procedures such as electromyography and nerve biopsy. In addition, early diagnosis can facilitate early interventions such as relevant therapies. Having a genetic diagnosis may also help determine which relatives are at risk, or even qualify affected patients to enroll in certain clinical trials. For more information on genetic testing for hereditary neuropathies click here

New research from the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania and the Children’s Hospital of Philadelphia recently spanned the globe to uncover a new genetic cause of CMT1 – the most common iteration of Charcot-Marie-Tooth.  For more information about this research click here.

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