Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A

Giulia Ursino, M. Antonia Alberti, Marina Grandis, Lizia Reni, Davide Pareyson, Emilia Bellone, Chiara Gemelli, Mario Sabatelli, Chiara Pisciotta, Marco Luigetti, Lucio Santoro, Laura Massollo, Angelo Schenone

Research output: Contribution to journalArticlepeer-review

Abstract

Charcot-Marie-Tooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be influenced by several conditions. We evaluated how comorbidities such as diabetes, hypothyroidism, exposure to toxins and obesity can modify or exacerbate the clinical and neurophysiological phenotype of CMT1A patients. Disability was measured using the classic CMT neuropathy score. Compared to controls, all groups of CMT1A patients with comorbidities had higher CMT neuropathy score. In particular, patients with CMT1A and diabetes mellitus show motor subscores which are significantly higher than in control CMT1A. Amplitudes of ulnar CMAP are lower in patients with CMT1A and diabetes mellitus, but not at a significant level. As expected, motor nerve conduction velocity is not influenced by any of the comorbidities. The presence of concomitant diseases shows a tendency to worsen the clinical and neurophysiological CMT1A phenotype, especially in patients with CMT1A and diabetes mellitus, where higher values in the CMT neuropathy score and clinical motor subscore have been observed.

Original languageEnglish
Pages (from-to)902-906
Number of pages5
JournalNeuromuscular Disorders
Volume23
Issue number11
DOIs
Publication statusPublished - Nov 2013

Keywords

  • CMT
  • CMT1A
  • Diabetes
  • Hypothyroidism
  • Obesity
  • Phenotype
  • Toxic

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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