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Paper Information

Journal:   GENETICS IN THE 3RD MILLENNIUM   WINTER 2016 , Volume 14 , Number 1; Page(s) 0 To 0.
 
Paper: 

HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN): CURRENT TRENDS AND FUTURE IMPLICATIONS FOR DIAGNOSIS AND MANAGEMENT

 
 
Author(s):  GHAYOOR KARIMIANI EHSAN*
 
* UNIVERSITY OF MANCHESTER
 
Abstract: 

Hereditary Motor Sensory Neuropathies (HSMN/CMT) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. HSMN/CMT is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. Clinical presentations, gene mutation frequencies, inheritance pattern in the pedigree plus electrodiagnosticsl are also beneficial in framing testing algorithms in practical clinical settings.
Next-generation sequencing (NGS), joined with specific testing panels, is increasing the efficiency of multigene analysis and is very quickly overtaking targeted testing strategies. Other types of hereditary neuropathies, including sensory predominant or motor predominant forms, are included in the general classification of CMT; however, for the purpose of this abstract, we will focus primarily on the forms accompanied with sensory and motor insufficiencies.
Currently, in the clinical practice multigene panel testing and NGS may be consideredfirst-line in many cases.
However, it is worth mentioning that to obtain to initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is a reasonable decision. With the improvement of technology and the price-cut, targeted testing will be soon replaced by multigene NGS panels that can perceive the full range of CMT mutations. Furthermore, clinical insight is still necessary given the variants of uncertain significance accompanied with NGS. Despite the current limitations, the genetic diagnosis of CMT is critical for accurate prognostication, genetic counseling, specific targeted therapies hopefully in future. Although whole exome and whole genome sequencing strategies have the power to further elucidate the genetics of CMT, continued technological advances are desirable.

 
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APA: Copy

GHAYOOR KARIMIANI, E. (2016). HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN): CURRENT TRENDS AND FUTURE IMPLICATIONS FOR DIAGNOSIS AND MANAGEMENT. GENETICS IN THE 3RD MILLENNIUM, 14(1), 0-0. https://www.sid.ir/en/journal/ViewPaper.aspx?id=508696



Vancouver: Copy

GHAYOOR KARIMIANI EHSAN. HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN): CURRENT TRENDS AND FUTURE IMPLICATIONS FOR DIAGNOSIS AND MANAGEMENT. GENETICS IN THE 3RD MILLENNIUM. 2016 [cited 2021May16];14(1):0-0. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=508696



IEEE: Copy

GHAYOOR KARIMIANI, E., 2016. HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN): CURRENT TRENDS AND FUTURE IMPLICATIONS FOR DIAGNOSIS AND MANAGEMENT. GENETICS IN THE 3RD MILLENNIUM, [online] 14(1), pp.0-0. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=508696.



 
 
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