Journal article
Strategy for genetic testing in Charcot-Marie-Disease
Acta myologica, Vol.30(2), pp.109-116
10/2011
PMCID: PMC3235845
PMID: 22106713
Abstract
Background: Charcot Marie Tooth disease (CMT) affects one in 2500 people. Genetic testing is often pursued for family planning purposes, natural history studies and for entry into clinical trials. However, identifying the genetic cause of CMT can be expensive and confusing to patients and physicians due to locus heterogeneity.
Methods: We analyzed data from more than 1000 of our patients to identify distinguishing features in various subtypes of CMT. Data from clinical phenotypes, neurophysiology, family history, and prevalence was combined to create algorithms that can be used to direct genetic testing for patients with CMT.
Findings: The largest group of patients in our clinic have slow motor nerve conduction velocities (MNCV) in the upper extremities. Approximately 88% of patients in this group have CMT1A. Those who had intermediate MNCV had primarily CMT1X (52.8%) or CMT1B (27.8%). Patients with very slow MNCV and delayed walking were very likely to have CMT1A (68%) or CMT1B (32%). No patients with CMT1B and very slow MNCV walked before 15 months of age. Patients with CMT2A form our largest group of patients with axonal forms of CMT.
Interpretation: Combining features of the phenotypic and physiology groups allowed us to identify patients who were highly likely to have specific subtypes of CMT. Based on these results, we created a series of algorithms to guide testing. A more detailed review of this data is published in Annals of Neurology.
Details
- Title: Subtitle
- Strategy for genetic testing in Charcot-Marie-Disease
- Creators
- L.J Miller - Department of Neurology, Wayne State University, Detroit, MIA.S.D Saporta - Department of Neurology, Wayne State University, Detroit, MIS.L Sottile - Department of Neurology, Wayne State University, Detroit, MIC.E Siskind - Department of Neurology, Wayne State University, Detroit, MIS.M.E Feely - Department of Neurology, Wayne State University, Detroit, MIM.E Shy - Department of Neurology, Wayne State University, Detroit, MI
- Resource Type
- Journal article
- Publication Details
- Acta myologica, Vol.30(2), pp.109-116
- Publisher
- Pacini Editore SpA
- PMID
- 22106713
- PMCID
- PMC3235845
- ISSN
- 1128-2460
- eISSN
- 1128-2460
- Language
- English
- Date published
- 10/2011
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020773802771
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