Tuesday, September 1, 2015

A practical approach to the genetic neuropathies

Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic
neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.

Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects of the long-term management of patients with inherited neuropathy.

From the article:

Most general neurologists will come across CMT and related disorders in their daily practice. A positive family history and slowly progressive disease course are the strongest clues to a genetic aetiology.
Genetic testing in CMT has been transformed by the introduction of next-generation sequencing. CMT1A due to the 17p duplication remains the commonest type of CMT and should be tested first in any patient with sporadic or autosomal dominant CMT1 before proceeding to panel or whole exome testing.
The new challenge in CMT and related disorders is in determining the true pathogenic mutation among a handful of novel variants identified in several known disease genes. This can be time consuming and requires a detailed clinical assessment to define the phenotype and where possible the evaluation of affected and unaffected family members.
Although there are no treatments for CMT and related disorders, there is much that can be done to improve a patient's quality of life. Physiotherapists, orthotists and podiatrists can offer advice on orthotics and stretching exercises to prevent Achilles tendon contractures; where there is progressive foot deformity or pain, an orthopaedic foot surgeon with experience in CMT may be consulted.

Courtesy of http://www.medscape.com/viewarticle/845089?nlid=87825_3001&src=wnl_edit_medp_neur&uac=60196BR&spon=26&impID=811708&faf=1

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