High glucose level as a modifier factor in CMT1A patients.
Juliana B Secchin1, Rita C C Leal1, Charles M Lourenço1
1Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Journal of the Peripheral Nervous System : JPNS
|April 30, 2020
Summary
Charcot-Marie-Tooth disease type 1A (CMT1A) patients with diabetes mellitus (DM) or impaired glucose tolerance (IGT) experience more severe neuropathy. Strict blood sugar control may help manage CMT1A progression in these individuals.
Area of Science:
- Neurology
- Genetics
- Endocrinology
Background:
- Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy.
- Diabetes mellitus (DM) is a leading cause of peripheral neuropathy.
- The combined impact of CMT1A and DM on neuropathy severity is not well understood.
Purpose of the Study:
- To characterize the phenotypic variability in CMT1A patients with concurrent high glucose levels (DM or impaired glucose tolerance [IGT]).
- To investigate the clinical and electrophysiological differences between CMT1A patients with and without glucose metabolism disorders.
Main Methods:
- Clinical assessment of 19 CMT1A patients with DM (CMTdiab), 7 with IGT (CMTintol), and 27 controls.
- Utilized scales: visual analogue scale, McGill, CMTNS, SF-36, and COMPASS 31.
- Performed electrophysiological studies to evaluate nerve conduction.
Main Results:
- CMTdiab patients exhibited more severe motor and sensory neuropathy, increased autonomic symptoms, and poorer quality of life.
- Proximal weakness and temporal dispersion were frequent in CMTdiab.
- CMTintol patients also showed more severe neuropathy.
- CMT1A with glucose disorders (CMTglic) appeared to cluster within families.
Conclusions:
- The co-occurrence of CMT1A and glucose metabolism disorders (CMTglic) leads to a more severe neuropathy phenotype.
- Strict blood glucose control is a potential therapeutic consideration for CMT1A patients with DM or IGT, given the lack of a cure for CMT1A.
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