Abstract
Myotonic dystrophy type 1 (DM1) is a genetic inherited autosomal dominant disease characterized by multisystem involvement, including muscle, heart, brain, eye, and endocrine system. Although several methods are available to evaluate muscle strength, endurance, and dexterity, there are no validated outcome measures aimed at objectively evaluating qualitative and quantitative gait alterations. Advantageously, wearable sensing technology has been successfully adopted in objectifying the assessment of motor disabilities in different medical occurrences, so that here we consider the adoption of such technology specifically for DM1. In particular, we measured motor tasks through inertial measurement units on a cohort of 13 DM1 patients and 11 healthy control counterparts. The motor tasks consisted of 16 meters of walking both at a comfortable speed and fast pace. Measured data consisted of plantar-flexion and dorsi-flexion angles assumed by both ankles, so to objectively evidence the footdrop behavior of the DM1 disease, and to define a novel severity index, termed SI-Norm2, to rate the grade of walking impairments. According to the obtained results, our approach could be useful for a more precise stratification of DM1 patients, providing a new tool for a personalized rehabilitation approach.
Highlights
Type I myotonic dystrophy (DM1) is a rare autosomal dominant disease, and it is the most common muscular dystrophy in adult patients
Here we present a new approach, derived from the measure and the analysis of kinematic parameters, in order to furnish a score of gait-related dynamic foot alterations in a cohort of DM1 patients
Controls mainly exhibit Area Ratio (AR) < 1 (“normal” walking), while patients AR > 1 (“footdrop-”), but some control presents “drop-like” foot behavior (AR > 1), and some patients exhibit “regular” performances (AR < 1). This can be due to different reasons such as individual walking attitudes or temporary joint problems
Summary
Type I myotonic dystrophy (DM1) is a rare autosomal dominant disease, and it is the most common muscular dystrophy in adult patients. Intergenerational and somatic instability of the CTG repeats is responsible for the high degree of variability in this disease [2,3]. In the classic adult-onset form, the first symptoms reported are myotonia and (slow progression of) strength loss at distal muscles. Congenital form and late-onset adult form represent the two extremes of a wide range of phenotypic variability and clinical presentation. Even if muscle strength is relatively preserved, patients commonly report postural instability and gait abnormalities, fall risk and a general reduction of life quality. Beyond the loss of muscle strength, the CNS may be involved in the pathophysiology and progression of balance and gait abnormalities in DM. Deeper investigation aimed at selecting pertinent outcome measures is essential to design a tailored therapeutic and rehabilitation approach [4]
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