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. 2022 Jan;43(1):559-563.
doi: 10.1007/s10072-021-05254-7. Epub 2021 Apr 26.

The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease

Stefano Tozza  1 , Dario Bruzzese  2 , Daniele Severi  3 , Emanuele Spina  3 , Rosa Iodice  3 , Lucia Ruggiero  3 , Raffaele Dubbioso  3 , Aniello Iovino  3 , Francesco Aruta  3 , Maria Nolano  3 , Lucio Santoro  3 , Fiore Manganelli  3
Affiliations

The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease

Stefano Tozza et al. Neurol Sci. 2022 Jan.

Abstract

Introduction: In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception of disturbances that mostly impact on daily life in CMT1A patients and its difference on the basis of age, gender, disability, and quality of life.

Methods: Forty-one CMT1A patients underwent neurological assessment focused on establishing clinical disability through the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and quality of life through the Short Form-36 (SF-36) questionnaire. We identified from CMT disturbances 5 categories [weakness in lower limbs (WLL), weakness in upper limbs (WUL), skeletal deformities (SD), sensory symptoms (SS), balance (B)] and patients classified the categories from the highest to the lowest impact on daily life (1: highest; 5: lowest). Ranking of the 5 categories, in the overall sample and in the different subgroups (dividing by gender, median of age and disease duration, CMTNS, domains of SF-36), was obtained and differences among subgroups were assessed using a bootstrap approach.

Results: Rank analysis showed that WLL was the most important disturbance on daily life whereas WUL had the lowest impact. In the older CMT1A group, the most important disturbance on daily life was B that was also the most relevant disturbance in patients with a greater disability. SD influenced daily life in younger patients. SS had less impact on daily life, with the exception of patients with a milder disability.

Discussion: Our findings demonstrated that the perception of disturbances that mostly impact on CMT1A patients' daily life changes over the lifetime and with degree of disability.

Keywords: CMT1A; Daily life; Hereditary neuropathy; Quality of life; Ranking approach.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of disturbance categories. For each disturbance categories, the rank score distribution (1: highest impact; 5: lowest impact; NC: not complained) was reported dividing by median age (a) and CMTNS (b)
See this image and copyright information in PMC

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