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We read with great interest the article by Teunissen et al1 in which the evolution of Charcot-Marie-Tooth disease type 2 (CMT2) was thoroughly quantified by examining a cohort of 43 patients during a 5-year period. Some points deserve further comment and elucidation. As indicated by the authors, CMT2 is genetically heterogeneous, but genetic characterization is only partially possible; therefore, it is likely that the conclusions of this study will have to be reconsidered in light of new information about the CMT2 gene, possibly defining different modes of the disease course for different genotypes. It would be interesting to know if specific clinical features were associated with slower or faster deterioration, as a possible clue to suspect different genotypes.
Another factor potentially interfering with the course of CMT2 is the coexistence of other diseases that can induce nerve damage. The authors do not specify if any of the patients had comorbidity with common diseases such as diabetes or whether they developed it during follow-up. It would be fortunate if this accurate study could provide additional information to evaluate the effect of comorbidity on the evolution of CMT2. The treatment of coexisting diseases in CMT is a common problem and may represent an important issue in the management of CMT to prevent deterioration.
It is also noteworthy that several patients complained of positive sensory symptoms, which are considered a classic feature of acquired rather than inherited neuropathies. Sensory symptoms may be more frequent in patients who have CMT with comorbidity2 ; on the other hand, we also showed that sensory symptoms are common in CMT2, even after minimizing the influence of comorbidity,3 as a possible aspect of genetic heterogeneity. Another sensory symptom to consider at follow-up is nonneuropathic (nociceptive) pain, which in many patients with CMT tends to increase as a consequence of musculoskeletal stress related to motor and postural defects.3
Finally, it is disappointing that the analysis of quality of life did not show changes despite clinical deterioration. This casts doubt on the usefulness of this type of end point as a tool for the evaluation of patients with CMT and other chronic neuromuscular diseases. This and similar studies should contribute to better define both the role and limits of quality-of-life analysis in neuromuscular diseases.
Correspondence: Dr Gemignani, Department of Neurosciences, University of Parma, Via Gramsci 14, I-43100 Parma, Italy (gemignan@unipr.it).
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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